chr17:41243571 T>TGCCTCATTTGTTTGGAAGAACCAATCAA
Annotations
GeneBRCA1
TranscriptNM_007294.3
cDNAc.3976_3977insTTGATTGGTTCTTCCAAACAAATGAGGC
Proteinp.H1326fs
Functionframeshift ins
Localizationexon
hg19chr17:41243571 T>TGCCTCATTTGTTTGGAAGAACCAATCAA
dbSNP
Synonyms
TranscriptcDNAProtein
NM_007298.3c.788-550_788-523dupTTGATTGGTTCTTCCAAACAAATGAGGC
NM_007299.3c.788-550_788-523dupTTGATTGGTTCTTCCAAACAAATGAGGC
NM_007297.3c.3835_3836insTTGATTGGTTCTTCCAAACAAATGAGGCp.H1279fs
NM_007300.3c.3976_3977insTTGATTGGTTCTTCCAAACAAATGAGGCp.H1326fs
NR_027676.1n.4085_4112dupTTGATTGGTTCTTCCAAACAAATGAGGC
Frequency in gnomAD
GenomeExome
MAX––
AFR––
AMR––
ASJ––
EAS––
FIN––
NFE––
SAS––