Canonical Allele Identifier: CA2260760834
Gene: BRCA1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.43045297A= , CM000679.2:g.43045297A= GRCh38
NC_000017.10:g.41197314A= , CM000679.1:g.41197314A= GRCh37
NC_000017.9:g.38450840A= NCBI36
NG_005905.2:g.172687T= , LRG_292:g.172687T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000461574.2:c.*381T= ENSP00000417241.2:n.*381T=
ENST00000470026.6:c.*381T= ENSP00000419274.2:n.*381T=
ENST00000473961.6:c.*381T= ENSP00000420201.2:n.*381T=
ENST00000476777.6:c.*381T= ENSP00000417554.2:n.*381T=
ENST00000477152.6:c.*381T= ENSP00000419988.2:n.*381T=
ENST00000478531.6:c.*381T= ENSP00000420412.2:n.*381T=
ENST00000489037.2:c.*381T= ENSP00000420781.2:n.*381T=
ENST00000493919.6:c.*381T= ENSP00000418819.2:n.*381T=
ENST00000494123.6:c.*381T= ENSP00000419103.2:n.*381T=
ENST00000497488.2:c.*381T= ENSP00000418986.2:n.*381T=
ENST00000618469.2:c.*381T= ENSP00000478114.2:n.*381T=
ENST00000634433.2:c.*381T= ENSP00000489431.2:n.*381T=
ENST00000644379.2:c.*381T= ENSP00000496570.2:n.*381T=
ENST00000644555.2:c.*381T= ENSP00000494614.2:n.*381T=
ENST00000652672.2:c.*381T= ENSP00000498906.2:n.*381T=
ENST00000700081.1:n.1856T=
ENST00000700082.1:n.1337T=
ENST00000357654.9:c.*381T= MANE Select ENSP00000350283.3:n.*381T=
ENST00000471181.7:c.*381T= ENSP00000418960.2:n.*381T=
ENST00000644379.1:c.2360T=
ENST00000352993.7:c.*381T= ENSP00000312236.5:n.*381T=
ENST00000357654.7:c.*381T= ENSP00000350283.3:n.*381T=
ENST00000468300.5:c.*487T= ENSP00000417148.1:n.*487T=
NM_007294.3:c.*381T= , LRG_292t1:c.*381T= NP_009225.1:n.*381T=
NM_007297.3:c.*381T= NP_009228.2:n.*381T=
NM_007298.3:c.*381T= NP_009229.2:n.*381T=
NM_007299.3:c.*487T= NP_009230.2:n.*487T=
NM_007300.3:c.*381T= NP_009231.2:n.*381T=
NR_027676.1:n.6109T=
NM_007294.4:c.*381T= MANE Select NP_009225.1:n.*381T=
NM_007297.4:c.*381T= NP_009228.2:n.*381T=
NM_007299.4:c.*487T= NP_009230.2:n.*487T=
NM_007300.4:c.*381T= NP_009231.2:n.*381T=
NR_027676.2:n.6150T=