Canonical Allele Identifier: CA913190339
Gene: BRCA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 125745
ClinVar RCV Id: RCV000112450

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.43067263_43068276del , CM000679.2:g.43067263_43068276del GRCh38
NC_000017.10:g.41219280_41220293del , CM000679.1:g.41219280_41220293del GRCh37
NC_000017.9:g.38472806_38473819del NCBI36
NG_005905.2:g.149708_150721del , LRG_292:g.149708_150721del

Transcript Alleles

HGVS Amino-acid change
ENST00000461574.2:c.4984-581_5071+345del
ENST00000470026.6:c.4987-581_5074+345del
ENST00000473961.6:c.4861-581_4948+345del
ENST00000476777.6:c.4981-581_5068+345del
ENST00000477152.6:c.4909-581_4996+345del
ENST00000478531.6:c.1675-581_1762+345del
ENST00000489037.2:c.4909-581_4996+345del
ENST00000493919.6:c.1537-581_1624+345del
ENST00000494123.6:c.4987-581_5074+345del
ENST00000497488.2:c.4099-581_4186+345del
ENST00000618469.2:c.4987-581_5074+345del
ENST00000634433.2:c.4864-581_4951+345del
ENST00000644379.2:c.5053-581_5140+345del
ENST00000644555.2:c.1537-581_1624+345del
ENST00000652672.2:c.4846-581_4933+345del
ENST00000484087.6:c.1549-581_1636+345del
ENST00000357654.9:c.4987-581_5074+345del
ENST00000471181.7:c.5050-581_5137+345del
ENST00000644379.1:c.1374-581_1461+345del
ENST00000352993.7:c.1561-581_1648+345del
ENST00000357654.7:c.4987-581_5074+345del
ENST00000461221.5:c.*4770-581_*4857+345del
ENST00000468300.5:c.1675-581_1762+345del
ENST00000471181.6:c.5050-581_5137+345del
ENST00000478531.5:c.1675-581_1762+345del
ENST00000484087.5:c.1300-581_1387+345del
ENST00000491747.6:c.1675-581_1762+345del
ENST00000493795.5:c.4846-581_4933+345del
ENST00000493919.5:c.1537-581_1624+345del
ENST00000586385.5:c.5-4325_5-3312del ENSP00000465818.1:n.5-4325_5-3312del
ENST00000591534.5:c.460-581_547+345del
ENST00000591849.5:c.-98-18086_-98-17073del ENSP00000465347.1:n.-98-18086_-98-17073de...
NM_007294.3:c.4987-581_5074+345del , LRG_292t1:c.4987-581_5074+345del
NM_007297.3:c.4846-581_4933+345del
NM_007298.3:c.1675-581_1762+345del
NM_007299.3:c.1675-581_1762+345del
NM_007300.3:c.5050-581_5137+345del
NR_027676.1:n.5123-581_5210+345del
NM_007294.4:c.4987-581_5074+345del
NM_007297.4:c.4846-581_4933+345del
NM_007299.4:c.1675-581_1762+345del
NM_007300.4:c.5050-581_5137+345del
NR_027676.2:n.5164-581_5251+345del