Canonical Allele Identifier: CA2739265588

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 2820944
• ClinVar RCV Id: RCV003645652

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43063377_43063378del , CM000679.2:g.43063377_43063378del	GRCh38
NC_000017.10:g.41215394_41215395del , CM000679.1:g.41215394_41215395del	GRCh37
NC_000017.9:g.38468920_38468921del	NCBI36
NG_005905.2:g.154607_154608del , LRG_292:g.154607_154608del

Transcript Alleles

HGVS	Amino-acid change
ENST00000461574.2:c.5150-4_5150-3del	ENSP00000417241.2:n.5150-4_5150-3del
ENST00000470026.6:c.5153-4_5153-3del	ENSP00000419274.2:n.5153-4_5153-3del
ENST00000473961.6:c.5027-4_5027-3del	ENSP00000420201.2:n.5027-4_5027-3del
ENST00000476777.6:c.5147-4_5147-3del	ENSP00000417554.2:n.5147-4_5147-3del
ENST00000477152.6:c.5075-4_5075-3del	ENSP00000419988.2:n.5075-4_5075-3del
ENST00000478531.6:c.1841-4_1841-3del	ENSP00000420412.2:n.1841-4_1841-3del
ENST00000489037.2:c.5075-4_5075-3del	ENSP00000420781.2:n.5075-4_5075-3del
ENST00000493919.6:c.1703-4_1703-3del	ENSP00000418819.2:n.1703-4_1703-3del
ENST00000494123.6:c.5153-4_5153-3del	ENSP00000419103.2:n.5153-4_5153-3del
ENST00000497488.2:c.4265-4_4265-3del	ENSP00000418986.2:n.4265-4_4265-3del
ENST00000618469.2:c.5153-4_5153-3del	ENSP00000478114.2:n.5153-4_5153-3del
ENST00000634433.2:c.5030-4_5030-3del	ENSP00000489431.2:n.5030-4_5030-3del
ENST00000644379.2:c.5219-4_5219-3del	ENSP00000496570.2:n.5219-4_5219-3del
ENST00000644555.2:c.1703-4_1703-3del	ENSP00000494614.2:n.1703-4_1703-3del
ENST00000652672.2:c.5012-4_5012-3del	ENSP00000498906.2:n.5012-4_5012-3del
ENST00000484087.6:c.1715-4_1715-3del	ENSP00000419481.2:n.1715-4_1715-3del
ENST00000357654.9:c.5153-4_5153-3del MANE Select	ENSP00000350283.3:n.5153-4_5153-3del
ENST00000471181.7:c.5216-4_5216-3del	ENSP00000418960.2:n.5216-4_5216-3del
ENST00000644379.1:c.1540-4_1540-3del
ENST00000352993.7:c.1727-4_1727-3del	ENSP00000312236.5:n.1727-4_1727-3del
ENST00000357654.7:c.5153-4_5153-3del	ENSP00000350283.3:n.5153-4_5153-3del
ENST00000461221.5:c.*4936-4_*4936-3del	ENSP00000418548.1:n.*4936-4_*4936-3del
ENST00000468300.5:c.1841-4_1841-3del	ENSP00000417148.1:n.1841-4_1841-3del
ENST00000471181.6:c.5216-4_5216-3del	ENSP00000418960.2:n.5216-4_5216-3del
ENST00000478531.5:c.1841-4_1841-3del	ENSP00000420412.1:n.1841-4_1841-3del
ENST00000484087.5:c.1466-4_1466-3del	ENSP00000419481.1:n.1466-4_1466-3del
ENST00000491747.6:c.1841-4_1841-3del	ENSP00000420705.2:n.1841-4_1841-3del
ENST00000493795.5:c.5012-4_5012-3del	ENSP00000418775.1:n.5012-4_5012-3del
ENST00000493919.5:c.1703-4_1703-3del	ENSP00000418819.1:n.1703-4_1703-3del
ENST00000586385.5:c.83-4_83-3del	ENSP00000465818.1:n.83-4_83-3del
ENST00000591534.5:c.626-4_626-3del	ENSP00000467329.1:n.626-4_626-3del
ENST00000591849.5:c.-98-13187_-98-13186del	ENSP00000465347.1:n.-98-13187_-98-13186del
NM_007294.3:c.5153-4_5153-3del , LRG_292t1:c.5153-4_5153-3del	NP_009225.1:n.5153-4_5153-3del
NM_007297.3:c.5012-4_5012-3del	NP_009228.2:n.5012-4_5012-3del
NM_007298.3:c.1841-4_1841-3del	NP_009229.2:n.1841-4_1841-3del
NM_007299.3:c.1841-4_1841-3del	NP_009230.2:n.1841-4_1841-3del
NM_007300.3:c.5216-4_5216-3del	NP_009231.2:n.5216-4_5216-3del
NR_027676.1:n.5289-4_5289-3del
NM_007294.4:c.5153-4_5153-3del MANE Select	NP_009225.1:n.5153-4_5153-3del
NM_007297.4:c.5012-4_5012-3del	NP_009228.2:n.5012-4_5012-3del
NM_007299.4:c.1841-4_1841-3del	NP_009230.2:n.1841-4_1841-3del
NM_007300.4:c.5216-4_5216-3del	NP_009231.2:n.5216-4_5216-3del
NR_027676.2:n.5330-4_5330-3del