Canonical Allele Identifier: CA658761223

Gene: BRCA1

Linked Data

• PubMed: PMID:22505045

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43082404dup , CM000679.2:g.43082404dup	GRCh38
NC_000017.10:g.41234421dup , CM000679.1:g.41234421dup	GRCh37
NC_000017.9:g.38487947dup	NCBI36
NG_005905.2:g.135581dup , LRG_292:g.135581dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.4357+1dup
ENST00000470026.6:c.4357+1dup
ENST00000473961.6:c.4231+1dup
ENST00000476777.6:c.4351+1dup
ENST00000477152.6:c.4279+1dup
ENST00000478531.6:c.1045+1dup
ENST00000489037.2:c.4279+1dup
ENST00000493919.6:c.907+1dup
ENST00000494123.6:c.4357+1dup
ENST00000497488.2:c.3469+1dup
ENST00000618469.2:c.4357+1dup
ENST00000634433.2:c.4234+1dup
ENST00000644379.2:c.4357+1dup
ENST00000644555.2:c.907+1dup
ENST00000652672.2:c.4216+1dup
ENST00000484087.6:c.922+1dup
ENST00000700182.1:c.967+1dup
ENST00000357654.9:c.4357+1dup
ENST00000471181.7:c.4357+1dup
ENST00000644379.1:c.678+1dup
ENST00000352993.7:c.931+1dup
ENST00000357654.7:c.4357+1dup
ENST00000461221.5:c.*4140+1dup
ENST00000461574.1:c.651+1dup
ENST00000468300.5:c.1048+1dup
ENST00000471181.6:c.4357+1dup
ENST00000478531.5:c.1045+1dup
ENST00000484087.5:c.670+1dup
ENST00000487825.5:c.673+1dup
ENST00000491747.6:c.1048+1dup
ENST00000493795.5:c.4216+1dup
ENST00000493919.5:c.907+1dup
ENST00000586385.5:c.5-18452dup	ENSP00000465818.1:n.5-18452dup
ENST00000591534.5:c.-43-7882dup	ENSP00000467329.1:n.-43-7882dup
ENST00000591849.5:c.-98-32213dup	ENSP00000465347.1:n.-98-32213dup
ENST00000621897.1:n.251+1dup
NM_007294.3:c.4357+1dup , LRG_292t1:c.4357+1dup
NM_007297.3:c.4216+1dup
NM_007298.3:c.1048+1dup
NM_007299.3:c.1048+1dup
NM_007300.3:c.4357+1dup
NR_027676.1:n.4493+1dup
NM_007294.4:c.4357+1dup
NM_007297.4:c.4216+1dup
NM_007299.4:c.1048+1dup
NM_007300.4:c.4357+1dup
NR_027676.2:n.4534+1dup