Canonical Allele Identifier: CA913190486

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 626903
• ClinVar RCV Id: RCV000770750
• dbSNP Id: rs1567810007

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43104123_43104262dup , CM000679.2:g.43104123_43104262dup	GRCh38
NC_000017.10:g.41256140_41256279dup , CM000679.1:g.41256140_41256279dup	GRCh37
NC_000017.9:g.38509666_38509805dup	NCBI36
NG_005905.2:g.113723_113862dup , LRG_292:g.113723_113862dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354071.8:n.366_505dup
ENST00000461574.2:c.302_441dup
ENST00000470026.6:c.302_441dup
ENST00000473961.6:c.302_441dup
ENST00000476777.6:c.302_441dup
ENST00000477152.6:c.224_363dup
ENST00000478531.6:c.302_441dup
ENST00000489037.2:c.224_363dup
ENST00000493919.6:c.161_300dup
ENST00000494123.6:c.302_441dup
ENST00000497488.2:c.-218-9401_-218-9262dup	ENSP00000418986.2:n.-218-9401_-218-9262dup
ENST00000618469.2:c.302_441dup
ENST00000634433.2:c.302_441dup
ENST00000644379.2:c.302_441dup
ENST00000644555.2:c.161_300dup
ENST00000652672.2:c.161_300dup
ENST00000484087.6:c.302_441dup
ENST00000700182.1:c.224_363dup
ENST00000700183.1:c.*216_*355dup
ENST00000700184.1:n.545_684dup
ENST00000357654.9:c.302_441dup
ENST00000471181.7:c.302_441dup
ENST00000642945.1:c.*176_*315dup
ENST00000652672.1:c.161_300dup
ENST00000352993.7:c.302_441dup
ENST00000354071.7:c.302_441dup
ENST00000357654.7:c.302_441dup
ENST00000461221.5:c.*88_*227dup
ENST00000461798.5:c.*88_*227dup
ENST00000468300.5:c.302_441dup
ENST00000470026.5:c.302_441dup
ENST00000471181.6:c.302_441dup
ENST00000473961.5:c.25_164dup
ENST00000476777.5:c.302_441dup
ENST00000477152.5:c.224_363dup
ENST00000478531.5:c.302_441dup
ENST00000484087.5:c.50_189dup
ENST00000487825.5:c.50_189dup
ENST00000491747.6:c.302_441dup
ENST00000492859.5:c.*238_*377dup
ENST00000493795.5:c.161_300dup
ENST00000493919.5:c.161_300dup
ENST00000494123.5:c.302_441dup
ENST00000497488.1:c.-218-9401_-218-9262dup	ENSP00000418986.1:n.-218-9401_-218-9262dup
ENST00000586385.5:c.4+20921_4+21060dup	ENSP00000465818.1:n.4+20921_4+21060dup
ENST00000591534.5:c.-44+21010_-44+21149dup	ENSP00000467329.1:n.-44+21010_-44+21149dup
ENST00000591849.5:c.-99+21010_-99+21149dup	ENSP00000465347.1:n.-99+21010_-99+21149dup
ENST00000634433.1:c.302_441dup
NM_007294.3:c.302_441dup , LRG_292t1:c.302_441dup
NM_007297.3:c.161_300dup
NM_007298.3:c.302_441dup
NM_007299.3:c.302_441dup
NM_007300.3:c.302_441dup
NR_027676.1:n.441_580dup
NM_007294.4:c.302_441dup
NM_007297.4:c.161_300dup
NM_007299.4:c.302_441dup
NM_007300.4:c.302_441dup
NR_027676.2:n.482_621dup