Canonical Allele Identifier: CA2499224378
Gene: BRCA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1050253
ClinVar RCV Id: RCV001357400

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.43063872_43069026del , CM000679.2:g.43063872_43069026del GRCh38
NC_000017.10:g.41215889_41221043del , CM000679.1:g.41215889_41221043del GRCh37
NC_000017.9:g.38469415_38474569del NCBI36
NG_005905.2:g.148958_154112del , LRG_292:g.148958_154112del

Transcript Alleles

HGVS Amino-acid change
ENST00000461574.2:c.4984-1331_5149+2del
ENST00000470026.6:c.4987-1331_5152+2del
ENST00000473961.6:c.4861-1331_5026+2del
ENST00000476777.6:c.4981-1331_5146+2del
ENST00000477152.6:c.4909-1331_5074+2del
ENST00000478531.6:c.1675-1331_1840+2del
ENST00000489037.2:c.4909-1331_5074+2del
ENST00000493919.6:c.1537-1331_1702+2del
ENST00000494123.6:c.4987-1331_5152+2del
ENST00000497488.2:c.4099-1331_4264+2del
ENST00000618469.2:c.4987-1331_5152+2del
ENST00000634433.2:c.4864-1331_5029+2del
ENST00000644379.2:c.5053-1331_5218+2del
ENST00000644555.2:c.1537-1331_1702+2del
ENST00000652672.2:c.4846-1331_5011+2del
ENST00000484087.6:c.1549-1331_1714+2del
ENST00000357654.9:c.4987-1331_5152+2del
ENST00000471181.7:c.5050-1331_5215+2del
ENST00000644379.1:c.1374-1331_1539+2del
ENST00000352993.7:c.1561-1331_1726+2del
ENST00000357654.7:c.4987-1331_5152+2del
ENST00000461221.5:c.*4770-1331_*4935+2del
ENST00000468300.5:c.1675-1331_1840+2del
ENST00000471181.6:c.5050-1331_5215+2del
ENST00000478531.5:c.1675-1331_1840+2del
ENST00000484087.5:c.1300-1331_1465+2del
ENST00000491747.6:c.1675-1331_1840+2del
ENST00000493795.5:c.4846-1331_5011+2del
ENST00000493919.5:c.1537-1331_1702+2del
ENST00000586385.5:c.5-5075_82+2del
ENST00000591534.5:c.460-1331_625+2del
ENST00000591849.5:c.-98-18836_-98-13682del ENSP00000465347.1:n.-98-18836_-98-13682de...
NM_007294.3:c.4987-1331_5152+2del , LRG_292t1:c.4987-1331_5152+2del
NM_007297.3:c.4846-1331_5011+2del
NM_007298.3:c.1675-1331_1840+2del
NM_007299.3:c.1675-1331_1840+2del
NM_007300.3:c.5050-1331_5215+2del
NR_027676.1:n.5123-1331_5288+2del
NM_007294.4:c.4987-1331_5152+2del
NM_007297.4:c.4846-1331_5011+2del
NM_007299.4:c.1675-1331_1840+2del
NM_007300.4:c.5050-1331_5215+2del
NR_027676.2:n.5164-1331_5329+2del