Canonical Allele Identifier: CA2580093974

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 1745056
• ClinVar RCV Id: RCV002335751

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43067607_43067630del , CM000679.2:g.43067607_43067630del	GRCh38
NC_000017.10:g.41219624_41219647del , CM000679.1:g.41219624_41219647del	GRCh37
NC_000017.9:g.38473150_38473173del	NCBI36
NG_005905.2:g.150356_150379del , LRG_292:g.150356_150379del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.5051_5071+3del
ENST00000470026.6:c.5054_5074+3del
ENST00000473961.6:c.4928_4948+3del
ENST00000476777.6:c.5048_5068+3del
ENST00000477152.6:c.4976_4996+3del
ENST00000478531.6:c.1742_1762+3del
ENST00000489037.2:c.4976_4996+3del
ENST00000493919.6:c.1604_1624+3del
ENST00000494123.6:c.5054_5074+3del
ENST00000497488.2:c.4166_4186+3del
ENST00000618469.2:c.5054_5074+3del
ENST00000634433.2:c.4931_4951+3del
ENST00000644379.2:c.5120_5140+3del
ENST00000644555.2:c.1604_1624+3del
ENST00000652672.2:c.4913_4933+3del
ENST00000484087.6:c.1616_1636+3del
ENST00000357654.9:c.5054_5074+3del
ENST00000471181.7:c.5117_5137+3del
ENST00000644379.1:c.1441_1461+3del
ENST00000352993.7:c.1628_1648+3del
ENST00000357654.7:c.5054_5074+3del
ENST00000461221.5:c.*4837_*4857+3del
ENST00000468300.5:c.1742_1762+3del
ENST00000471181.6:c.5117_5137+3del
ENST00000472490.1:n.207_230del
ENST00000478531.5:c.1742_1762+3del
ENST00000484087.5:c.1367_1387+3del
ENST00000491747.6:c.1742_1762+3del
ENST00000493795.5:c.4913_4933+3del
ENST00000493919.5:c.1604_1624+3del
ENST00000586385.5:c.5-3677_5-3654del	ENSP00000465818.1:n.5-3677_5-3654del
ENST00000591534.5:c.527_547+3del
ENST00000591849.5:c.-98-17438_-98-17415del	ENSP00000465347.1:n.-98-17438_-98-17415del
NM_007294.3:c.5054_5074+3del , LRG_292t1:c.5054_5074+3del
NM_007297.3:c.4913_4933+3del
NM_007298.3:c.1742_1762+3del
NM_007299.3:c.1742_1762+3del
NM_007300.3:c.5117_5137+3del
NR_027676.1:n.5190_5210+3del
NM_007294.4:c.5054_5074+3del
NM_007297.4:c.4913_4933+3del
NM_007299.4:c.1742_1762+3del
NM_007300.4:c.5117_5137+3del
NR_027676.2:n.5231_5251+3del