Canonical Allele Identifier: CA2499224405

Gene: BRCA1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43074443_43074444insCTCCT , CM000679.2:g.43074443_43074444insCTCCT	GRCh38
NC_000017.10:g.41226460_41226461insCTCCT , CM000679.1:g.41226460_41226461insCTCCT	GRCh37
NC_000017.9:g.38479986_38479987insCTCCT	NCBI36
NG_005905.2:g.143540_143541insAGGAG , LRG_292:g.143540_143541insAGGAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.4559_4560insAGGAG	ENSP00000417241.2:p.Asn1520LysfsTer29
ENST00000470026.6:c.4562_4563insAGGAG	ENSP00000419274.2:p.Asn1521LysfsTer29
ENST00000473961.6:c.4436_4437insAGGAG	ENSP00000420201.2:p.Asn1479LysfsTer29
ENST00000476777.6:c.4556_4557insAGGAG	ENSP00000417554.2:p.Asn1519LysfsTer29
ENST00000477152.6:c.4484_4485insAGGAG	ENSP00000419988.2:p.Asn1495LysfsTer29
ENST00000478531.6:c.1250_1251insAGGAG	ENSP00000420412.2:p.Asn417LysfsTer29
ENST00000489037.2:c.4484_4485insAGGAG	ENSP00000420781.2:p.Asn1495LysfsTer29
ENST00000493919.6:c.1112_1113insAGGAG	ENSP00000418819.2:p.Asn371LysfsTer29
ENST00000494123.6:c.4562_4563insAGGAG	ENSP00000419103.2:p.Asn1521LysfsTer29
ENST00000497488.2:c.3674_3675insAGGAG	ENSP00000418986.2:p.Asn1225LysfsTer29
ENST00000618469.2:c.4562_4563insAGGAG	ENSP00000478114.2:p.Asn1521LysfsTer29
ENST00000634433.2:c.4439_4440insAGGAG	ENSP00000489431.2:p.Asn1480LysfsTer29
ENST00000644379.2:c.4628_4629insAGGAG	ENSP00000496570.2:p.Asn1543LysfsTer29
ENST00000644555.2:c.1112_1113insAGGAG	ENSP00000494614.2:p.Asn371LysfsTer29
ENST00000652672.2:c.4421_4422insAGGAG	ENSP00000498906.2:p.Asn1474LysfsTer29
ENST00000484087.6:c.1124_1125insAGGAG	ENSP00000419481.2:p.Asn375LysfsTer29
ENST00000700182.1:c.1169_1170insAGGAG	ENSP00000514849.1:p.Asn390LysfsTer29
ENST00000357654.9:c.4562_4563insAGGAG MANE Select	ENSP00000350283.3:p.Asn1521LysfsTer29
ENST00000471181.7:c.4625_4626insAGGAG	ENSP00000418960.2:p.Asn1542LysfsTer29
ENST00000644379.1:c.949_950insAGGAG
ENST00000352993.7:c.1136_1137insAGGAG	ENSP00000312236.5:p.Asn379LysfsTer29
ENST00000357654.7:c.4562_4563insAGGAG	ENSP00000350283.3:p.Asn1521LysfsTer29
ENST00000461221.5:c.*4345_*4346insAGGAG	ENSP00000418548.1:n.*4345_*4346insAGGAG
ENST00000468300.5:c.1250_1251insAGGAG	ENSP00000417148.1:p.Asn417LysfsTer29
ENST00000471181.6:c.4625_4626insAGGAG	ENSP00000418960.2:p.Asn1542LysfsTer29
ENST00000478531.5:c.1250_1251insAGGAG	ENSP00000420412.1:p.Asn417LysfsTer29
ENST00000484087.5:c.875_876insAGGAG	ENSP00000419481.1:p.Asn292LysfsTer29
ENST00000491747.6:c.1250_1251insAGGAG	ENSP00000420705.2:p.Asn417LysfsTer29
ENST00000493795.5:c.4421_4422insAGGAG	ENSP00000418775.1:p.Asn1474LysfsTer29
ENST00000493919.5:c.1112_1113insAGGAG	ENSP00000418819.1:p.Asn371LysfsTer29
ENST00000586385.5:c.5-10493_5-10492insAGGAG	ENSP00000465818.1:n.5-10493_5-10492insAGGAG
ENST00000591534.5:c.35_36insAGGAG	ENSP00000467329.1:p.Asn12LysfsTer29
ENST00000591849.5:c.-98-24254_-98-24253insAGGAG	ENSP00000465347.1:n.-98-24254_-98-24253insAGGAG
NM_007294.3:c.4562_4563insAGGAG , LRG_292t1:c.4562_4563insAGGAG	NP_009225.1:p.Asn1521LysfsTer29
NM_007297.3:c.4421_4422insAGGAG	NP_009228.2:p.Asn1474LysfsTer29
NM_007298.3:c.1250_1251insAGGAG	NP_009229.2:p.Asn417LysfsTer29
NM_007299.3:c.1250_1251insAGGAG	NP_009230.2:p.Asn417LysfsTer29
NM_007300.3:c.4625_4626insAGGAG	NP_009231.2:p.Asn1542LysfsTer29
NR_027676.1:n.4698_4699insAGGAG
NM_007294.4:c.4562_4563insAGGAG MANE Select	NP_009225.1:p.Asn1521LysfsTer29
NM_007297.4:c.4421_4422insAGGAG	NP_009228.2:p.Asn1474LysfsTer29
NM_007299.4:c.1250_1251insAGGAG	NP_009230.2:p.Asn417LysfsTer29
NM_007300.4:c.4625_4626insAGGAG	NP_009231.2:p.Asn1542LysfsTer29
NR_027676.2:n.4739_4740insAGGAG