Canonical Allele Identifier: CA10602569
Gene: BRCA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 267605
ClinVar RCV Id: RCV000258299
dbSNP Id: rs1555574411

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.43045751_43045814dup , CM000679.2:g.43045751_43045814dup GRCh38
NC_000017.10:g.41197768_41197831dup , CM000679.1:g.41197768_41197831dup GRCh37
NC_000017.9:g.38451294_38451357dup NCBI36
NG_005905.2:g.172171_172234dup , LRG_292:g.172171_172234dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000461574.2:c.5465-11_5517dup
ENST00000470026.6:c.5468-11_5520dup
ENST00000473961.6:c.5342-11_5394dup
ENST00000476777.6:c.5462-11_5514dup
ENST00000477152.6:c.5390-11_5442dup
ENST00000478531.6:c.2156-11_2208dup
ENST00000489037.2:c.5390-11_5442dup
ENST00000493919.6:c.2018-11_2070dup
ENST00000494123.6:c.5468-11_5520dup
ENST00000497488.2:c.4580-11_4632dup
ENST00000618469.2:c.5468-11_5520dup
ENST00000634433.2:c.5345-11_5397dup
ENST00000644379.2:c.5534-11_5586dup
ENST00000644555.2:c.2018-11_2070dup
ENST00000652672.2:c.5327-11_5379dup
ENST00000484087.6:c.2030-11_2082dup
ENST00000700081.1:n.1351-11_1403dup
ENST00000700082.1:n.832-11_884dup
ENST00000357654.9:c.5468-11_5520dup
ENST00000471181.7:c.5531-11_5583dup
ENST00000644379.1:c.1855-11_1907dup
ENST00000352993.7:c.2042-11_2094dup
ENST00000357654.7:c.5468-11_5520dup
ENST00000461221.5:c.*5251-11_*5303dup
ENST00000468300.5:c.2082-11_*34dup
ENST00000471181.6:c.5531-11_5583dup
ENST00000491747.6:c.2156-11_2208dup
ENST00000493795.5:c.5327-11_5379dup
ENST00000586385.5:c.398-11_450dup
ENST00000591534.5:c.941-11_993dup
ENST00000591849.5:c.167-11_219dup
NM_007294.3:c.5468-11_5520dup , LRG_292t1:c.5468-11_5520dup
NM_007297.3:c.5327-11_5379dup
NM_007298.3:c.2156-11_2208dup
NM_007299.3:c.2082-11_*34dup
NM_007300.3:c.5531-11_5583dup
NR_027676.1:n.5604-11_5656dup
NM_007294.4:c.5468-11_5520dup
NM_007297.4:c.5327-11_5379dup
NM_007299.4:c.2082-11_*34dup
NM_007300.4:c.5531-11_5583dup
NR_027676.2:n.5645-11_5697dup