Canonical Allele Identifier: CA2260760453
Gene: BRCA1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.43044822_43044824delinsTTG , CM000679.2:g.43044822_43044824delinsTTG GRCh38
NC_000017.10:g.41196839_41196841delinsTTG , CM000679.1:g.41196839_41196841delinsTTG GRCh37
NC_000017.9:g.38450365_38450367delinsTTG NCBI36
NG_005905.2:g.173160_173162delinsCAA , LRG_292:g.173160_173162delinsCAA

Transcript Alleles

HGVS Amino-acid change
ENST00000461574.2:c.*854_*856delinsCAA ENSP00000417241.2:n.*854_*856delinsCAA
ENST00000470026.6:c.*854_*856delinsCAA ENSP00000419274.2:n.*854_*856delinsCAA
ENST00000473961.6:c.*854_*856delinsCAA ENSP00000420201.2:n.*854_*856delinsCAA
ENST00000476777.6:c.*854_*856delinsCAA ENSP00000417554.2:n.*854_*856delinsCAA
ENST00000477152.6:c.*854_*856delinsCAA ENSP00000419988.2:n.*854_*856delinsCAA
ENST00000478531.6:c.*854_*856delinsCAA ENSP00000420412.2:n.*854_*856delinsCAA
ENST00000489037.2:c.*854_*856delinsCAA ENSP00000420781.2:n.*854_*856delinsCAA
ENST00000493919.6:c.*854_*856delinsCAA ENSP00000418819.2:n.*854_*856delinsCAA
ENST00000494123.6:c.*854_*856delinsCAA ENSP00000419103.2:n.*854_*856delinsCAA
ENST00000497488.2:c.*854_*856delinsCAA ENSP00000418986.2:n.*854_*856delinsCAA
ENST00000618469.2:c.*854_*856delinsCAA ENSP00000478114.2:n.*854_*856delinsCAA
ENST00000634433.2:c.*854_*856delinsCAA ENSP00000489431.2:n.*854_*856delinsCAA
ENST00000644555.2:c.*854_*856delinsCAA ENSP00000494614.2:n.*854_*856delinsCAA
ENST00000652672.2:c.*854_*856delinsCAA ENSP00000498906.2:n.*854_*856delinsCAA
ENST00000700081.1:n.2329_2331delinsCAA
ENST00000357654.9:c.*854_*856delinsCAA MANE Select ENSP00000350283.3:n.*854_*856delinsCAA
ENST00000471181.7:c.*854_*856delinsCAA ENSP00000418960.2:n.*854_*856delinsCAA
ENST00000352993.7:c.*854_*856delinsCAA ENSP00000312236.5:n.*854_*856delinsCAA
ENST00000357654.7:c.*854_*856delinsCAA ENSP00000350283.3:n.*854_*856delinsCAA
ENST00000468300.5:c.*960_*962delinsCAA ENSP00000417148.1:n.*960_*962delinsCAA
NM_007294.3:c.*854_*856delinsCAA , LRG_292t1:c.*854_*856delinsCAA NP_009225.1:n.*854_*856delinsCAA
NM_007297.3:c.*854_*856delinsCAA NP_009228.2:n.*854_*856delinsCAA
NM_007298.3:c.*854_*856delinsCAA NP_009229.2:n.*854_*856delinsCAA
NM_007299.3:c.*960_*962delinsCAA NP_009230.2:n.*960_*962delinsCAA
NM_007300.3:c.*854_*856delinsCAA NP_009231.2:n.*854_*856delinsCAA
NR_027676.1:n.6582_6584delinsCAA
NM_007294.4:c.*854_*856delinsCAA MANE Select NP_009225.1:n.*854_*856delinsCAA
NM_007297.4:c.*854_*856delinsCAA NP_009228.2:n.*854_*856delinsCAA
NM_007299.4:c.*960_*962delinsCAA NP_009230.2:n.*960_*962delinsCAA
NM_007300.4:c.*854_*856delinsCAA NP_009231.2:n.*854_*856delinsCAA
NR_027676.2:n.6623_6625delinsCAA