Canonical Allele Identifier: CA891844422

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 584946
• ClinVar RCV Id: RCV000989880
• dbSNP Id: rs1567778075
• MyVariant Identifiers: chr17:g.41226455del (hg19) ; chr17:g.43074438del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43074440del , CM000679.2:g.43074440del	GRCh38
NC_000017.10:g.41226457del , CM000679.1:g.41226457del	GRCh37
NC_000017.9:g.38479983del	NCBI36
NG_005905.2:g.143546del , LRG_292:g.143546del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.4565del	ENSP00000417241.2:p.Pro1522HisfsTer25
ENST00000470026.6:c.4568del	ENSP00000419274.2:p.Pro1523HisfsTer25
ENST00000473961.6:c.4442del	ENSP00000420201.2:p.Pro1481HisfsTer25
ENST00000476777.6:c.4562del	ENSP00000417554.2:p.Pro1521HisfsTer25
ENST00000477152.6:c.4490del	ENSP00000419988.2:p.Pro1497HisfsTer25
ENST00000478531.6:c.1256del	ENSP00000420412.2:p.Pro419HisfsTer25
ENST00000489037.2:c.4490del	ENSP00000420781.2:p.Pro1497HisfsTer25
ENST00000493919.6:c.1118del	ENSP00000418819.2:p.Pro373HisfsTer25
ENST00000494123.6:c.4568del	ENSP00000419103.2:p.Pro1523HisfsTer25
ENST00000497488.2:c.3680del	ENSP00000418986.2:p.Pro1227HisfsTer25
ENST00000618469.2:c.4568del	ENSP00000478114.2:p.Pro1523HisfsTer25
ENST00000634433.2:c.4445del	ENSP00000489431.2:p.Pro1482HisfsTer25
ENST00000644379.2:c.4634del	ENSP00000496570.2:p.Pro1545HisfsTer25
ENST00000644555.2:c.1118del	ENSP00000494614.2:p.Pro373HisfsTer25
ENST00000652672.2:c.4427del	ENSP00000498906.2:p.Pro1476HisfsTer25
ENST00000484087.6:c.1130del	ENSP00000419481.2:p.Pro377HisfsTer25
ENST00000700182.1:c.1175del	ENSP00000514849.1:p.Pro392HisfsTer25
ENST00000357654.9:c.4568del MANE Select	ENSP00000350283.3:p.Pro1523HisfsTer25
ENST00000471181.7:c.4631del	ENSP00000418960.2:p.Pro1544HisfsTer25
ENST00000644379.1:c.955del
ENST00000352993.7:c.1142del	ENSP00000312236.5:p.Pro381HisfsTer25
ENST00000357654.7:c.4568del	ENSP00000350283.3:p.Pro1523HisfsTer25
ENST00000461221.5:c.*4351del	ENSP00000418548.1:n.*4351del
ENST00000468300.5:c.1256del	ENSP00000417148.1:p.Pro419HisfsTer25
ENST00000471181.6:c.4631del	ENSP00000418960.2:p.Pro1544HisfsTer25
ENST00000478531.5:c.1256del	ENSP00000420412.1:p.Pro419HisfsTer25
ENST00000484087.5:c.881del	ENSP00000419481.1:p.Pro294HisfsTer25
ENST00000491747.6:c.1256del	ENSP00000420705.2:p.Pro419HisfsTer25
ENST00000493795.5:c.4427del	ENSP00000418775.1:p.Pro1476HisfsTer25
ENST00000493919.5:c.1118del	ENSP00000418819.1:p.Pro373HisfsTer25
ENST00000586385.5:c.5-10487del	ENSP00000465818.1:n.5-10487del
ENST00000591534.5:c.41del	ENSP00000467329.1:p.Pro14HisfsTer25
ENST00000591849.5:c.-98-24248del	ENSP00000465347.1:n.-98-24248del
NM_007294.3:c.4568del , LRG_292t1:c.4568del	NP_009225.1:p.Pro1523HisfsTer25
NM_007297.3:c.4427del	NP_009228.2:p.Pro1476HisfsTer25
NM_007298.3:c.1256del	NP_009229.2:p.Pro419HisfsTer25
NM_007299.3:c.1256del	NP_009230.2:p.Pro419HisfsTer25
NM_007300.3:c.4631del	NP_009231.2:p.Pro1544HisfsTer25
NR_027676.1:n.4704del
NM_007294.4:c.4568del MANE Select	NP_009225.1:p.Pro1523HisfsTer25
NM_007297.4:c.4427del	NP_009228.2:p.Pro1476HisfsTer25
NM_007299.4:c.1256del	NP_009230.2:p.Pro419HisfsTer25
NM_007300.4:c.4631del	NP_009231.2:p.Pro1544HisfsTer25
NR_027676.2:n.4745del