chr17:41246531 CTT>C
Annotations
GeneBRCA1
TranscriptNM_007294.3
cDNAc.1015_1016del
Proteinp.K339fs
Functionframeshift del
Localizationexon
hg19chr17:41246531 CTT>C
dbSNP
Synonyms
TranscriptcDNAProtein
NM_007297.3c.874_875delp.K292fs
NM_007300.3c.1015_1016delp.K339fs
NM_007298.3c.787+228_787+229delAA
NM_007299.3c.787+228_787+229delAA
NR_027676.1n.1151_1152delAA
Frequency in gnomAD
GenomeExome
MAX––
AFR––
AMR––
ASJ––
EAS––
FIN––
NFE––
SAS––