Canonical Allele Identifier: CA915950119

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 646336
• ClinVar RCV Id: RCV003166191
• dbSNP Id: rs1597835688

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43074334del , CM000679.2:g.43074334del	GRCh38
NC_000017.10:g.41226351del , CM000679.1:g.41226351del	GRCh37
NC_000017.9:g.38479877del	NCBI36
NG_005905.2:g.143650del , LRG_292:g.143650del

Transcript Alleles

HGVS	Amino-acid change
ENST00000461574.2:c.4669del	ENSP00000417241.2:p.Leu1557Ter
ENST00000470026.6:c.4672del	ENSP00000419274.2:p.Leu1558Ter
ENST00000473961.6:c.4546del	ENSP00000420201.2:p.Leu1516Ter
ENST00000476777.6:c.4666del	ENSP00000417554.2:p.Leu1556Ter
ENST00000477152.6:c.4594del	ENSP00000419988.2:p.Leu1532Ter
ENST00000478531.6:c.1360del	ENSP00000420412.2:p.Leu454Ter
ENST00000489037.2:c.4594del	ENSP00000420781.2:p.Leu1532Ter
ENST00000493919.6:c.1222del	ENSP00000418819.2:p.Leu408Ter
ENST00000494123.6:c.4672del	ENSP00000419103.2:p.Leu1558Ter
ENST00000497488.2:c.3784del	ENSP00000418986.2:p.Leu1262Ter
ENST00000618469.2:c.4672del	ENSP00000478114.2:p.Leu1558Ter
ENST00000634433.2:c.4549del	ENSP00000489431.2:p.Leu1517Ter
ENST00000644379.2:c.4738del	ENSP00000496570.2:p.Leu1580Ter
ENST00000644555.2:c.1222del	ENSP00000494614.2:p.Leu408Ter
ENST00000652672.2:c.4531del	ENSP00000498906.2:p.Leu1511Ter
ENST00000484087.6:c.1234del	ENSP00000419481.2:p.Leu412Ter
ENST00000700182.1:c.1279del	ENSP00000514849.1:p.Leu427Ter
ENST00000357654.9:c.4672del MANE Select	ENSP00000350283.3:p.Leu1558Ter
ENST00000471181.7:c.4735del	ENSP00000418960.2:p.Leu1579Ter
ENST00000644379.1:c.1059del
ENST00000352993.7:c.1246del	ENSP00000312236.5:p.Leu416Ter
ENST00000357654.7:c.4672del	ENSP00000350283.3:p.Leu1558Ter
ENST00000461221.5:c.*4455del	ENSP00000418548.1:n.*4455del
ENST00000468300.5:c.1360del	ENSP00000417148.1:p.Leu454Ter
ENST00000471181.6:c.4735del	ENSP00000418960.2:p.Leu1579Ter
ENST00000478531.5:c.1360del	ENSP00000420412.1:p.Leu454Ter
ENST00000484087.5:c.985del	ENSP00000419481.1:p.Leu329Ter
ENST00000491747.6:c.1360del	ENSP00000420705.2:p.Leu454Ter
ENST00000493795.5:c.4531del	ENSP00000418775.1:p.Leu1511Ter
ENST00000493919.5:c.1222del	ENSP00000418819.1:p.Leu408Ter
ENST00000586385.5:c.5-10383del	ENSP00000465818.1:n.5-10383del
ENST00000591534.5:c.145del	ENSP00000467329.1:p.Leu49Ter
ENST00000591849.5:c.-98-24144del	ENSP00000465347.1:n.-98-24144del
NM_007294.3:c.4672del , LRG_292t1:c.4672del	NP_009225.1:p.Leu1558Ter
NM_007297.3:c.4531del	NP_009228.2:p.Leu1511Ter
NM_007298.3:c.1360del	NP_009229.2:p.Leu454Ter
NM_007299.3:c.1360del	NP_009230.2:p.Leu454Ter
NM_007300.3:c.4735del	NP_009231.2:p.Leu1579Ter
NR_027676.1:n.4808del
NM_007294.4:c.4672del MANE Select	NP_009225.1:p.Leu1558Ter
NM_007297.4:c.4531del	NP_009228.2:p.Leu1511Ter
NM_007299.4:c.1360del	NP_009230.2:p.Leu454Ter
NM_007300.4:c.4735del	NP_009231.2:p.Leu1579Ter
NR_027676.2:n.4849del