Canonical Allele Identifier: CA003364

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 55463
• ClinVar RCV Id: RCV000112567 ; RCV000129556 ; RCV000587393
• dbSNP Id: rs80358347
• MyVariant Identifiers: chr17:g.41209131_41209133del (hg19) ; chr17:g.43057114_43057116del (hg38)
• PubMed: PMID:15235020 ; PMID:16267036 ; PMID:16280041 ; PMID:19941162 ; PMID:21203900

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43057117_43057119del , CM000679.2:g.43057117_43057119del	GRCh38
NC_000017.10:g.41209134_41209136del , CM000679.1:g.41209134_41209136del	GRCh37
NC_000017.9:g.38462660_38462662del	NCBI36
NG_005905.2:g.160868_160870del , LRG_292:g.160868_160870del

Transcript Alleles

HGVS	Amino-acid change
ENST00000461574.2:c.5210_5212del	ENSP00000417241.2:p.Gly1737del
ENST00000470026.6:c.5213_5215del	ENSP00000419274.2:p.Gly1738del
ENST00000473961.6:c.5087_5089del	ENSP00000420201.2:p.Gly1696del
ENST00000476777.6:c.5207_5209del	ENSP00000417554.2:p.Gly1736del
ENST00000477152.6:c.5135_5137del	ENSP00000419988.2:p.Gly1712del
ENST00000478531.6:c.1901_1903del	ENSP00000420412.2:p.Gly634del
ENST00000489037.2:c.5135_5137del	ENSP00000420781.2:p.Gly1712del
ENST00000493919.6:c.1763_1765del	ENSP00000418819.2:p.Gly588del
ENST00000494123.6:c.5213_5215del	ENSP00000419103.2:p.Gly1738del
ENST00000497488.2:c.4325_4327del	ENSP00000418986.2:p.Gly1442del
ENST00000618469.2:c.5213_5215del	ENSP00000478114.2:p.Gly1738del
ENST00000634433.2:c.5090_5092del	ENSP00000489431.2:p.Gly1697del
ENST00000644379.2:c.5279_5281del	ENSP00000496570.2:p.Gly1760del
ENST00000644555.2:c.1763_1765del	ENSP00000494614.2:p.Gly588del
ENST00000652672.2:c.5072_5074del	ENSP00000498906.2:p.Gly1691del
ENST00000484087.6:c.1775_1777del	ENSP00000419481.2:p.Gly592del
ENST00000357654.9:c.5213_5215del MANE Select	ENSP00000350283.3:p.Gly1738del
ENST00000471181.7:c.5276_5278del	ENSP00000418960.2:p.Gly1759del
ENST00000644379.1:c.1600_1602del
ENST00000352993.7:c.1787_1789del	ENSP00000312236.5:p.Gly596del
ENST00000357654.7:c.5213_5215del	ENSP00000350283.3:p.Gly1738del
ENST00000461221.5:c.*4996_*4998del	ENSP00000418548.1:n.*4996_*4998del
ENST00000468300.5:c.1901_1903del	ENSP00000417148.1:p.Gly634del
ENST00000471181.6:c.5276_5278del	ENSP00000418960.2:p.Gly1759del
ENST00000491747.6:c.1901_1903del	ENSP00000420705.2:p.Gly634del
ENST00000493795.5:c.5072_5074del	ENSP00000418775.1:p.Gly1691del
ENST00000586385.5:c.143_145del	ENSP00000465818.1:p.Gly48del
ENST00000591534.5:c.686_688del	ENSP00000467329.1:p.Gly229del
ENST00000591849.5:c.-98-6926_-98-6924del	ENSP00000465347.1:n.-98-6926_-98-6924del
NM_007294.3:c.5213_5215del , LRG_292t1:c.5213_5215del	NP_009225.1:p.Gly1738del
NM_007297.3:c.5072_5074del	NP_009228.2:p.Gly1691del
NM_007298.3:c.1901_1903del	NP_009229.2:p.Gly634del
NM_007299.3:c.1901_1903del	NP_009230.2:p.Gly634del
NM_007300.3:c.5276_5278del	NP_009231.2:p.Gly1759del
NR_027676.1:n.5349_5351del
NM_007294.4:c.5213_5215del MANE Select	NP_009225.1:p.Gly1738del
NM_007297.4:c.5072_5074del	NP_009228.2:p.Gly1691del
NM_007299.4:c.1901_1903del	NP_009230.2:p.Gly634del
NM_007300.4:c.5276_5278del	NP_009231.2:p.Gly1759del
NR_027676.2:n.5390_5392del