chr17:41243808 ACGGTGCTATGC>A
Annotations
GeneBRCA1
TranscriptNM_007294.3
cDNAc.3729_3739del
Proteinp.R1243fs
Functionframeshift del
Localizationexon
hg19chr17:41243808 ACGGTGCTATGC>A
dbSNP
Synonyms
TranscriptcDNAProtein
NM_007298.3c.788-770_788-760delGCATAGCACCG
NM_007299.3c.788-770_788-760delGCATAGCACCG
NR_027676.1n.3865_3875delGCATAGCACCG
NM_007300.3c.3729_3739delp.R1243fs
NM_007297.3c.3588_3598delp.R1196fs
Frequency in gnomAD
GenomeExome
MAX––
AFR––
AMR––
ASJ––
EAS––
FIN––
NFE––
SAS––