chr17:41245330 CT>C
Annotations
GeneBRCA1
TranscriptNM_007294.3
cDNAc.2217delA
Proteinp.K739fs
Functionframeshift del
Localizationexon
hg19chr17:41245330 CT>C
dbSNP
Synonyms
TranscriptcDNAProtein
NM_007297.3c.2076delAp.K692fs
NM_007300.3c.2217delAp.K739fs
NM_007298.3c.787+1430delA
NM_007299.3c.787+1430delA
NR_027676.1n.2353delA
Frequency in gnomAD
GenomeExome
MAX––
AFR––
AMR––
ASJ––
EAS––
FIN––
NFE––
SAS––