Canonical Allele Identifier: CA2260760807
Gene: BRCA1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.43045250T= , CM000679.2:g.43045250T= GRCh38
NC_000017.10:g.41197267T= , CM000679.1:g.41197267T= GRCh37
NC_000017.9:g.38450793T= NCBI36
NG_005905.2:g.172734A= , LRG_292:g.172734A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000461574.2:c.*428A= ENSP00000417241.2:n.*428A=
ENST00000470026.6:c.*428A= ENSP00000419274.2:n.*428A=
ENST00000473961.6:c.*428A= ENSP00000420201.2:n.*428A=
ENST00000476777.6:c.*428A= ENSP00000417554.2:n.*428A=
ENST00000477152.6:c.*428A= ENSP00000419988.2:n.*428A=
ENST00000478531.6:c.*428A= ENSP00000420412.2:n.*428A=
ENST00000489037.2:c.*428A= ENSP00000420781.2:n.*428A=
ENST00000493919.6:c.*428A= ENSP00000418819.2:n.*428A=
ENST00000494123.6:c.*428A= ENSP00000419103.2:n.*428A=
ENST00000497488.2:c.*428A= ENSP00000418986.2:n.*428A=
ENST00000618469.2:c.*428A= ENSP00000478114.2:n.*428A=
ENST00000634433.2:c.*428A= ENSP00000489431.2:n.*428A=
ENST00000644379.2:c.*428A= ENSP00000496570.2:n.*428A=
ENST00000644555.2:c.*428A= ENSP00000494614.2:n.*428A=
ENST00000652672.2:c.*428A= ENSP00000498906.2:n.*428A=
ENST00000700081.1:n.1903A=
ENST00000700082.1:n.1384A=
ENST00000357654.9:c.*428A= MANE Select ENSP00000350283.3:n.*428A=
ENST00000471181.7:c.*428A= ENSP00000418960.2:n.*428A=
ENST00000644379.1:c.2407A=
ENST00000352993.7:c.*428A= ENSP00000312236.5:n.*428A=
ENST00000357654.7:c.*428A= ENSP00000350283.3:n.*428A=
ENST00000468300.5:c.*534A= ENSP00000417148.1:n.*534A=
NM_007294.3:c.*428A= , LRG_292t1:c.*428A= NP_009225.1:n.*428A=
NM_007297.3:c.*428A= NP_009228.2:n.*428A=
NM_007298.3:c.*428A= NP_009229.2:n.*428A=
NM_007299.3:c.*534A= NP_009230.2:n.*534A=
NM_007300.3:c.*428A= NP_009231.2:n.*428A=
NR_027676.1:n.6156A=
NM_007294.4:c.*428A= MANE Select NP_009225.1:n.*428A=
NM_007297.4:c.*428A= NP_009228.2:n.*428A=
NM_007299.4:c.*534A= NP_009230.2:n.*534A=
NM_007300.4:c.*428A= NP_009231.2:n.*428A=
NR_027676.2:n.6197A=