Canonical Allele Identifier: CA2809538977

Gene: BRCA1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43092006_43092007insTTAA , CM000679.2:g.43092006_43092007insTTAA	GRCh38
NC_000017.10:g.41244023_41244024insTTAA , CM000679.1:g.41244023_41244024insTTAA	GRCh37
NC_000017.9:g.38497549_38497550insTTAA	NCBI36
NG_005905.2:g.125978_125979insTAAT , LRG_292:g.125978_125979insTAAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354071.8:n.3589_3590insTAAT
ENST00000461574.2:c.3525_3526insTAAT	ENSP00000417241.2:p.Val1176Ter
ENST00000470026.6:c.3525_3526insTAAT	ENSP00000419274.2:p.Val1176Ter
ENST00000473961.6:c.3399_3400insTAAT	ENSP00000420201.2:p.Val1134Ter
ENST00000476777.6:c.3522_3523insTAAT	ENSP00000417554.2:p.Val1175Ter
ENST00000477152.6:c.3447_3448insTAAT	ENSP00000419988.2:p.Val1150Ter
ENST00000478531.6:c.785-974_785-973insTAAT	ENSP00000420412.2:n.785-974_785-973insTAAT
ENST00000489037.2:c.3447_3448insTAAT	ENSP00000420781.2:p.Val1150Ter
ENST00000493919.6:c.647-974_647-973insTAAT	ENSP00000418819.2:n.647-974_647-973insTAAT
ENST00000494123.6:c.3525_3526insTAAT	ENSP00000419103.2:p.Val1176Ter
ENST00000497488.2:c.2637_2638insTAAT	ENSP00000418986.2:p.Val880Ter
ENST00000618469.2:c.3525_3526insTAAT	ENSP00000478114.2:p.Val1176Ter
ENST00000634433.2:c.3402_3403insTAAT	ENSP00000489431.2:p.Val1135Ter
ENST00000644379.2:c.3525_3526insTAAT	ENSP00000496570.2:p.Val1176Ter
ENST00000644555.2:c.647-974_647-973insTAAT	ENSP00000494614.2:n.647-974_647-973insTAAT
ENST00000652672.2:c.3384_3385insTAAT	ENSP00000498906.2:p.Val1129Ter
ENST00000484087.6:c.665-974_665-973insTAAT	ENSP00000419481.2:n.665-974_665-973insTAAT
ENST00000700182.1:c.707-974_707-973insTAAT	ENSP00000514849.1:n.707-974_707-973insTAAT
ENST00000357654.9:c.3525_3526insTAAT MANE Select	ENSP00000350283.3:p.Val1176Ter
ENST00000471181.7:c.3525_3526insTAAT	ENSP00000418960.2:p.Val1176Ter
ENST00000352993.7:c.671-974_671-973insTAAT	ENSP00000312236.5:n.671-974_671-973insTAAT
ENST00000354071.7:c.3525_3526insTAAT	ENSP00000326002.7:p.Val1176Ter
ENST00000357654.7:c.3525_3526insTAAT	ENSP00000350283.3:p.Val1176Ter
ENST00000461221.5:c.*3308_*3309insTAAT	ENSP00000418548.1:n.*3308_*3309insTAAT
ENST00000468300.5:c.788-974_788-973insTAAT	ENSP00000417148.1:n.788-974_788-973insTAAT
ENST00000471181.6:c.3525_3526insTAAT	ENSP00000418960.2:p.Val1176Ter
ENST00000478531.5:c.785-974_785-973insTAAT	ENSP00000420412.1:n.785-974_785-973insTAAT
ENST00000484087.5:c.410-974_410-973insTAAT	ENSP00000419481.1:n.410-974_410-973insTAAT
ENST00000487825.5:c.413-974_413-973insTAAT	ENSP00000418212.1:n.413-974_413-973insTAAT
ENST00000491747.6:c.788-974_788-973insTAAT	ENSP00000420705.2:n.788-974_788-973insTAAT
ENST00000493795.5:c.3384_3385insTAAT	ENSP00000418775.1:p.Val1129Ter
ENST00000493919.5:c.647-974_647-973insTAAT	ENSP00000418819.1:n.647-974_647-973insTAAT
ENST00000586385.5:c.5-28055_5-28054insTAAT	ENSP00000465818.1:n.5-28055_5-28054insTAAT
ENST00000591534.5:c.-43-17485_-43-17484insTAAT	ENSP00000467329.1:n.-43-17485_-43-17484insTAAT
ENST00000591849.5:c.-99+33265_-99+33266insTAAT	ENSP00000465347.1:n.-99+33265_-99+33266insTAAT
NM_007294.3:c.3525_3526insTAAT , LRG_292t1:c.3525_3526insTAAT	NP_009225.1:p.Val1176Ter
NM_007297.3:c.3384_3385insTAAT	NP_009228.2:p.Val1129Ter
NM_007298.3:c.788-974_788-973insTAAT	NP_009229.2:n.788-974_788-973insTAAT
NM_007299.3:c.788-974_788-973insTAAT	NP_009230.2:n.788-974_788-973insTAAT
NM_007300.3:c.3525_3526insTAAT	NP_009231.2:p.Val1176Ter
NR_027676.1:n.3661_3662insTAAT
NM_007294.4:c.3525_3526insTAAT MANE Select	NP_009225.1:p.Val1176Ter
NM_007297.4:c.3384_3385insTAAT	NP_009228.2:p.Val1129Ter
NM_007299.4:c.788-974_788-973insTAAT	NP_009230.2:n.788-974_788-973insTAAT
NM_007300.4:c.3525_3526insTAAT	NP_009231.2:p.Val1176Ter
NR_027676.2:n.3702_3703insTAAT