Canonical Allele Identifier: CA919844556
Gene: BRCA1 HGNC NCBI

Linked Data

dbSNP Id: rs1567805924

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.43099774_43099810del , CM000679.2:g.43099774_43099810del GRCh38
NC_000017.10:g.41251791_41251827del , CM000679.1:g.41251791_41251827del GRCh37
NC_000017.9:g.38505317_38505353del NCBI36
NG_005905.2:g.118176_118212del , LRG_292:g.118176_118212del

Transcript Alleles

HGVS Amino-acid Change
ENST00000354071.8:n.578_611+3del
ENST00000461574.2:c.514_547+3del
ENST00000470026.6:c.514_547+3del
ENST00000473961.6:c.511_544+3del
ENST00000476777.6:c.511_544+3del
ENST00000477152.6:c.436_469+3del
ENST00000478531.6:c.511_544+3del
ENST00000489037.2:c.436_469+3del
ENST00000493919.6:c.373_406+3del
ENST00000494123.6:c.514_547+3del
ENST00000497488.2:c.-218-4948_-218-4912del ENSP00000418986.2:n.-218-4948_-218-4912del
ENST00000618469.2:c.514_547+3del
ENST00000634433.2:c.514_547+3del
ENST00000644379.2:c.514_547+3del
ENST00000644555.2:c.373_406+3del
ENST00000652672.2:c.373_406+3del
ENST00000484087.6:c.514_547+3del
ENST00000700182.1:c.433_466+3del
ENST00000700183.1:c.*428_*461+3del
ENST00000700184.1:n.754_790del
ENST00000357654.9:c.514_547+3del
ENST00000471181.7:c.514_547+3del
ENST00000642945.1:c.*388_*421+3del
ENST00000652672.1:c.373_406+3del
ENST00000352993.7:c.514_547+3del
ENST00000354071.7:c.514_547+3del
ENST00000357654.7:c.514_547+3del
ENST00000461221.5:c.*297_*330+3del
ENST00000468300.5:c.514_547+3del
ENST00000470026.5:c.514_547+3del
ENST00000471181.6:c.514_547+3del
ENST00000473961.5:c.234_267+3del
ENST00000476777.5:c.511_544+3del
ENST00000477152.5:c.436_469+3del
ENST00000478531.5:c.511_544+3del
ENST00000484087.5:c.259_292+3del
ENST00000487825.5:c.262_295+3del
ENST00000491747.6:c.514_547+3del
ENST00000492859.5:c.*450_*483+3del
ENST00000493795.5:c.373_406+3del
ENST00000493919.5:c.373_406+3del
ENST00000494123.5:c.514_547+3del
ENST00000497488.1:c.-218-4948_-218-4912del ENSP00000418986.1:n.-218-4948_-218-4912del
ENST00000586385.5:c.4+25374_4+25410del ENSP00000465818.1:n.4+25374_4+25410del
ENST00000591534.5:c.-43-25287_-43-25251del ENSP00000467329.1:n.-43-25287_-43-25251del
ENST00000591849.5:c.-99+25463_-99+25499del ENSP00000465347.1:n.-99+25463_-99+25499del
ENST00000634433.1:c.514_547+3del
NM_007294.3:c.514_547+3del , LRG_292t1:c.514_547+3del
NM_007297.3:c.373_406+3del
NM_007298.3:c.514_547+3del
NM_007299.3:c.514_547+3del
NM_007300.3:c.514_547+3del
NR_027676.1:n.650_683+3del
NM_007294.4:c.514_547+3del
NM_007297.4:c.373_406+3del
NM_007299.4:c.514_547+3del
NM_007300.4:c.514_547+3del
NR_027676.2:n.691_724+3del