chr7:6026731 CT>C
Annotations
GenePMS2
TranscriptNM_000535.6
cDNAc.1664delA
Proteinp.Q555fs
Functionframeshift del
Localizationexon
hg19chr7:6026731 CT>C
dbSNP
Synonyms
TranscriptcDNAProtein
NM_001322008.1c.1346delAp.Q449fs
NM_001322010.1c.1103delAp.Q368fs
NM_001322004.1c.1259delAp.Q420fs
NM_001322006.1c.1508delAp.Q503fs
NM_001322007.1c.1346delAp.Q449fs
NM_001322013.1c.1091delAp.Q364fs
NM_001322003.1c.1259delAp.Q420fs
NM_001322005.1c.1259delAp.Q420fs
NM_001322009.1c.1259delAp.Q420fs
NM_001322011.1c.731delAp.Q244fs
NM_001322012.1c.731delAp.Q244fs
NM_001322014.1c.1664delAp.Q555fs
NM_001322015.1c.1355delAp.Q452fs
NR_136154.1n.1751delA
Frequency in gnomAD
GenomeExome
MAX––
AFR––
AMR––
ASJ––
EAS––
FIN––
NFE––
SAS––