Canonical Allele Identifier: CA2638062925

Gene: BRCA1

Linked Data

• gnomAD v4: 17-43074376-GC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43074379del , CM000679.2:g.43074379del	GRCh38
NC_000017.10:g.41226396del , CM000679.1:g.41226396del	GRCh37
NC_000017.9:g.38479922del	NCBI36
NG_005905.2:g.143607del , LRG_292:g.143607del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.4626del	ENSP00000417241.2:p.Pro1543HisfsTer4
ENST00000470026.6:c.4629del	ENSP00000419274.2:p.Pro1544HisfsTer4
ENST00000473961.6:c.4503del	ENSP00000420201.2:p.Pro1502HisfsTer4
ENST00000476777.6:c.4623del	ENSP00000417554.2:p.Pro1542HisfsTer4
ENST00000477152.6:c.4551del	ENSP00000419988.2:p.Pro1518HisfsTer4
ENST00000478531.6:c.1317del	ENSP00000420412.2:p.Pro440HisfsTer4
ENST00000489037.2:c.4551del	ENSP00000420781.2:p.Pro1518HisfsTer4
ENST00000493919.6:c.1179del	ENSP00000418819.2:p.Pro394HisfsTer4
ENST00000494123.6:c.4629del	ENSP00000419103.2:p.Pro1544HisfsTer4
ENST00000497488.2:c.3741del	ENSP00000418986.2:p.Pro1248HisfsTer4
ENST00000618469.2:c.4629del	ENSP00000478114.2:p.Pro1544HisfsTer4
ENST00000634433.2:c.4506del	ENSP00000489431.2:p.Pro1503HisfsTer4
ENST00000644379.2:c.4695del	ENSP00000496570.2:p.Pro1566HisfsTer4
ENST00000644555.2:c.1179del	ENSP00000494614.2:p.Pro394HisfsTer4
ENST00000652672.2:c.4488del	ENSP00000498906.2:p.Pro1497HisfsTer4
ENST00000484087.6:c.1191del	ENSP00000419481.2:p.Pro398HisfsTer4
ENST00000700182.1:c.1236del	ENSP00000514849.1:p.Pro413HisfsTer4
ENST00000357654.9:c.4629del MANE Select	ENSP00000350283.3:p.Pro1544HisfsTer4
ENST00000471181.7:c.4692del	ENSP00000418960.2:p.Pro1565HisfsTer4
ENST00000644379.1:c.1016del
ENST00000352993.7:c.1203del	ENSP00000312236.5:p.Pro402HisfsTer4
ENST00000357654.7:c.4629del	ENSP00000350283.3:p.Pro1544HisfsTer4
ENST00000461221.5:c.*4412del	ENSP00000418548.1:n.*4412del
ENST00000468300.5:c.1317del	ENSP00000417148.1:p.Pro440HisfsTer4
ENST00000471181.6:c.4692del	ENSP00000418960.2:p.Pro1565HisfsTer4
ENST00000478531.5:c.1317del	ENSP00000420412.1:p.Pro440HisfsTer4
ENST00000484087.5:c.942del	ENSP00000419481.1:p.Pro315HisfsTer4
ENST00000491747.6:c.1317del	ENSP00000420705.2:p.Pro440HisfsTer4
ENST00000493795.5:c.4488del	ENSP00000418775.1:p.Pro1497HisfsTer4
ENST00000493919.5:c.1179del	ENSP00000418819.1:p.Pro394HisfsTer4
ENST00000586385.5:c.5-10426del	ENSP00000465818.1:n.5-10426del
ENST00000591534.5:c.102del	ENSP00000467329.1:p.Pro35HisfsTer4
ENST00000591849.5:c.-98-24187del	ENSP00000465347.1:n.-98-24187del
NM_007294.3:c.4629del , LRG_292t1:c.4629del	NP_009225.1:p.Pro1544HisfsTer4
NM_007297.3:c.4488del	NP_009228.2:p.Pro1497HisfsTer4
NM_007298.3:c.1317del	NP_009229.2:p.Pro440HisfsTer4
NM_007299.3:c.1317del	NP_009230.2:p.Pro440HisfsTer4
NM_007300.3:c.4692del	NP_009231.2:p.Pro1565HisfsTer4
NR_027676.1:n.4765del
NM_007294.4:c.4629del MANE Select	NP_009225.1:p.Pro1544HisfsTer4
NM_007297.4:c.4488del	NP_009228.2:p.Pro1497HisfsTer4
NM_007299.4:c.1317del	NP_009230.2:p.Pro440HisfsTer4
NM_007300.4:c.4692del	NP_009231.2:p.Pro1565HisfsTer4
NR_027676.2:n.4806del