Canonical Allele Identifier: CA2838212669
Gene: BRCA1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.43045859_43045860insA , CM000679.2:g.43045859_43045860insA GRCh38
NC_000017.10:g.41197876_41197877insA , CM000679.1:g.41197876_41197877insA GRCh37
NC_000017.9:g.38451402_38451403insA NCBI36
NG_005905.2:g.172124_172125insT , LRG_292:g.172124_172125insT

Transcript Alleles

HGVS Amino-acid Change
ENST00000461574.2:c.5465-58_5465-57insT ENSP00000417241.2:n.5465-58_5465-57insT
ENST00000470026.6:c.5468-58_5468-57insT ENSP00000419274.2:n.5468-58_5468-57insT
ENST00000473961.6:c.5342-58_5342-57insT ENSP00000420201.2:n.5342-58_5342-57insT
ENST00000476777.6:c.5462-58_5462-57insT ENSP00000417554.2:n.5462-58_5462-57insT
ENST00000477152.6:c.5390-58_5390-57insT ENSP00000419988.2:n.5390-58_5390-57insT
ENST00000478531.6:c.2156-58_2156-57insT ENSP00000420412.2:n.2156-58_2156-57insT
ENST00000489037.2:c.5390-58_5390-57insT ENSP00000420781.2:n.5390-58_5390-57insT
ENST00000493919.6:c.2018-58_2018-57insT ENSP00000418819.2:n.2018-58_2018-57insT
ENST00000494123.6:c.5468-58_5468-57insT ENSP00000419103.2:n.5468-58_5468-57insT
ENST00000497488.2:c.4580-58_4580-57insT ENSP00000418986.2:n.4580-58_4580-57insT
ENST00000618469.2:c.5468-58_5468-57insT ENSP00000478114.2:n.5468-58_5468-57insT
ENST00000634433.2:c.5345-58_5345-57insT ENSP00000489431.2:n.5345-58_5345-57insT
ENST00000644379.2:c.5534-58_5534-57insT ENSP00000496570.2:n.5534-58_5534-57insT
ENST00000644555.2:c.2018-58_2018-57insT ENSP00000494614.2:n.2018-58_2018-57insT
ENST00000652672.2:c.5327-58_5327-57insT ENSP00000498906.2:n.5327-58_5327-57insT
ENST00000484087.6:c.2030-58_2030-57insT ENSP00000419481.2:n.2030-58_2030-57insT
ENST00000700081.1:n.1351-58_1351-57insT
ENST00000700082.1:n.832-58_832-57insT
ENST00000357654.9:c.5468-58_5468-57insT MANE Select ENSP00000350283.3:n.5468-58_5468-57insT
ENST00000471181.7:c.5531-58_5531-57insT ENSP00000418960.2:n.5531-58_5531-57insT
ENST00000644379.1:c.1855-58_1855-57insT
ENST00000352993.7:c.2042-58_2042-57insT ENSP00000312236.5:n.2042-58_2042-57insT
ENST00000357654.7:c.5468-58_5468-57insT ENSP00000350283.3:n.5468-58_5468-57insT
ENST00000461221.5:c.*5251-58_*5251-57insT ENSP00000418548.1:n.*5251-58_*5251-57insT
ENST00000468300.5:c.2082-58_2082-57insT ENSP00000417148.1:n.2082-58_2082-57insT
ENST00000471181.6:c.5531-58_5531-57insT ENSP00000418960.2:n.5531-58_5531-57insT
ENST00000491747.6:c.2156-58_2156-57insT ENSP00000420705.2:n.2156-58_2156-57insT
ENST00000493795.5:c.5327-58_5327-57insT ENSP00000418775.1:n.5327-58_5327-57insT
ENST00000586385.5:c.398-58_398-57insT ENSP00000465818.1:n.398-58_398-57insT
ENST00000591534.5:c.941-58_941-57insT ENSP00000467329.1:n.941-58_941-57insT
ENST00000591849.5:c.167-58_167-57insT ENSP00000465347.1:n.167-58_167-57insT
NM_007294.3:c.5468-58_5468-57insT , LRG_292t1:c.5468-58_5468-57insT NP_009225.1:n.5468-58_5468-57insT
NM_007297.3:c.5327-58_5327-57insT NP_009228.2:n.5327-58_5327-57insT
NM_007298.3:c.2156-58_2156-57insT NP_009229.2:n.2156-58_2156-57insT
NM_007299.3:c.2082-58_2082-57insT NP_009230.2:n.2082-58_2082-57insT
NM_007300.3:c.5531-58_5531-57insT NP_009231.2:n.5531-58_5531-57insT
NR_027676.1:n.5604-58_5604-57insT
NM_007294.4:c.5468-58_5468-57insT MANE Select NP_009225.1:n.5468-58_5468-57insT
NM_007297.4:c.5327-58_5327-57insT NP_009228.2:n.5327-58_5327-57insT
NM_007299.4:c.2082-58_2082-57insT NP_009230.2:n.2082-58_2082-57insT
NM_007300.4:c.5531-58_5531-57insT NP_009231.2:n.5531-58_5531-57insT
NR_027676.2:n.5645-58_5645-57insT