Canonical Allele Identifier: CA2695226123

Gene: BRCA1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43063899_43063901del , CM000679.2:g.43063899_43063901del	GRCh38
NC_000017.10:g.41215916_41215918del , CM000679.1:g.41215916_41215918del	GRCh37
NC_000017.9:g.38469442_38469444del	NCBI36
NG_005905.2:g.154086_154088del , LRG_292:g.154086_154088del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.5125_5127del	ENSP00000417241.2:p.Gly1709del
ENST00000470026.6:c.5128_5130del	ENSP00000419274.2:p.Gly1710del
ENST00000473961.6:c.5002_5004del	ENSP00000420201.2:p.Gly1668del
ENST00000476777.6:c.5122_5124del	ENSP00000417554.2:p.Gly1708del
ENST00000477152.6:c.5050_5052del	ENSP00000419988.2:p.Gly1684del
ENST00000478531.6:c.1816_1818del	ENSP00000420412.2:p.Gly606del
ENST00000489037.2:c.5050_5052del	ENSP00000420781.2:p.Gly1684del
ENST00000493919.6:c.1678_1680del	ENSP00000418819.2:p.Gly560del
ENST00000494123.6:c.5128_5130del	ENSP00000419103.2:p.Gly1710del
ENST00000497488.2:c.4240_4242del	ENSP00000418986.2:p.Gly1414del
ENST00000618469.2:c.5128_5130del	ENSP00000478114.2:p.Gly1710del
ENST00000634433.2:c.5005_5007del	ENSP00000489431.2:p.Gly1669del
ENST00000644379.2:c.5194_5196del	ENSP00000496570.2:p.Gly1732del
ENST00000644555.2:c.1678_1680del	ENSP00000494614.2:p.Gly560del
ENST00000652672.2:c.4987_4989del	ENSP00000498906.2:p.Gly1663del
ENST00000484087.6:c.1690_1692del	ENSP00000419481.2:p.Gly564del
ENST00000357654.9:c.5128_5130del MANE Select	ENSP00000350283.3:p.Gly1710del
ENST00000471181.7:c.5191_5193del	ENSP00000418960.2:p.Gly1731del
ENST00000644379.1:c.1515_1517del
ENST00000352993.7:c.1702_1704del	ENSP00000312236.5:p.Gly568del
ENST00000357654.7:c.5128_5130del	ENSP00000350283.3:p.Gly1710del
ENST00000461221.5:c.*4911_*4913del	ENSP00000418548.1:n.*4911_*4913del
ENST00000468300.5:c.1816_1818del	ENSP00000417148.1:p.Gly606del
ENST00000471181.6:c.5191_5193del	ENSP00000418960.2:p.Gly1731del
ENST00000478531.5:c.1816_1818del	ENSP00000420412.1:p.Gly606del
ENST00000484087.5:c.1441_1443del	ENSP00000419481.1:p.Gly481del
ENST00000491747.6:c.1816_1818del	ENSP00000420705.2:p.Gly606del
ENST00000493795.5:c.4987_4989del	ENSP00000418775.1:p.Gly1663del
ENST00000493919.5:c.1678_1680del	ENSP00000418819.1:p.Gly560del
ENST00000586385.5:c.58_60del	ENSP00000465818.1:p.Gly20del
ENST00000591534.5:c.601_603del	ENSP00000467329.1:p.Gly201del
ENST00000591849.5:c.-98-13708_-98-13706del	ENSP00000465347.1:n.-98-13708_-98-13706del
NM_007294.3:c.5128_5130del , LRG_292t1:c.5128_5130del	NP_009225.1:p.Gly1710del
NM_007297.3:c.4987_4989del	NP_009228.2:p.Gly1663del
NM_007298.3:c.1816_1818del	NP_009229.2:p.Gly606del
NM_007299.3:c.1816_1818del	NP_009230.2:p.Gly606del
NM_007300.3:c.5191_5193del	NP_009231.2:p.Gly1731del
NR_027676.1:n.5264_5266del
NM_007294.4:c.5128_5130del MANE Select	NP_009225.1:p.Gly1710del
NM_007297.4:c.4987_4989del	NP_009228.2:p.Gly1663del
NM_007299.4:c.1816_1818del	NP_009230.2:p.Gly606del
NM_007300.4:c.5191_5193del	NP_009231.2:p.Gly1731del
NR_027676.2:n.5305_5307del