Canonical Allele Identifier: CA003313

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 55439
• ClinVar RCV Id: RCV000112542 ; RCV000485800
• dbSNP Id: rs80358346
• MyVariant Identifiers: chr17:g.41215380_41215382del (hg19) ; chr17:g.43063363_43063365del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43063363_43063365del , CM000679.2:g.43063363_43063365del	GRCh38
NC_000017.10:g.41215380_41215382del , CM000679.1:g.41215380_41215382del	GRCh37
NC_000017.9:g.38468906_38468908del	NCBI36
NG_005905.2:g.154619_154621del , LRG_292:g.154619_154621del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.5158_5160del	ENSP00000417241.2:p.Gln1720del
ENST00000470026.6:c.5161_5163del	ENSP00000419274.2:p.Gln1721del
ENST00000473961.6:c.5035_5037del	ENSP00000420201.2:p.Gln1679del
ENST00000476777.6:c.5155_5157del	ENSP00000417554.2:p.Gln1719del
ENST00000477152.6:c.5083_5085del	ENSP00000419988.2:p.Gln1695del
ENST00000478531.6:c.1849_1851del	ENSP00000420412.2:p.Gln617del
ENST00000489037.2:c.5083_5085del	ENSP00000420781.2:p.Gln1695del
ENST00000493919.6:c.1711_1713del	ENSP00000418819.2:p.Gln571del
ENST00000494123.6:c.5161_5163del	ENSP00000419103.2:p.Gln1721del
ENST00000497488.2:c.4273_4275del	ENSP00000418986.2:p.Gln1425del
ENST00000618469.2:c.5161_5163del	ENSP00000478114.2:p.Gln1721del
ENST00000634433.2:c.5038_5040del	ENSP00000489431.2:p.Gln1680del
ENST00000644379.2:c.5227_5229del	ENSP00000496570.2:p.Gln1743del
ENST00000644555.2:c.1711_1713del	ENSP00000494614.2:p.Gln571del
ENST00000652672.2:c.5020_5022del	ENSP00000498906.2:p.Gln1674del
ENST00000484087.6:c.1723_1725del	ENSP00000419481.2:p.Gln575del
ENST00000357654.9:c.5161_5163del MANE Select	ENSP00000350283.3:p.Gln1721del
ENST00000471181.7:c.5224_5226del	ENSP00000418960.2:p.Gln1742del
ENST00000644379.1:c.1548_1550del
ENST00000352993.7:c.1735_1737del	ENSP00000312236.5:p.Gln579del
ENST00000357654.7:c.5161_5163del	ENSP00000350283.3:p.Gln1721del
ENST00000461221.5:c.*4944_*4946del	ENSP00000418548.1:n.*4944_*4946del
ENST00000468300.5:c.1849_1851del	ENSP00000417148.1:p.Gln617del
ENST00000471181.6:c.5224_5226del	ENSP00000418960.2:p.Gln1742del
ENST00000478531.5:c.1849_1851del	ENSP00000420412.1:p.Gln617del
ENST00000484087.5:c.1474_1476del	ENSP00000419481.1:p.Gln492del
ENST00000491747.6:c.1849_1851del	ENSP00000420705.2:p.Gln617del
ENST00000493795.5:c.5020_5022del	ENSP00000418775.1:p.Gln1674del
ENST00000493919.5:c.1711_1713del	ENSP00000418819.1:p.Gln571del
ENST00000586385.5:c.91_93del	ENSP00000465818.1:p.Gln31del
ENST00000591534.5:c.634_636del	ENSP00000467329.1:p.Gln212del
ENST00000591849.5:c.-98-13175_-98-13173del	ENSP00000465347.1:n.-98-13175_-98-13173del
NM_007294.3:c.5161_5163del , LRG_292t1:c.5161_5163del	NP_009225.1:p.Gln1721del
NM_007297.3:c.5020_5022del	NP_009228.2:p.Gln1674del
NM_007298.3:c.1849_1851del	NP_009229.2:p.Gln617del
NM_007299.3:c.1849_1851del	NP_009230.2:p.Gln617del
NM_007300.3:c.5224_5226del	NP_009231.2:p.Gln1742del
NR_027676.1:n.5297_5299del
NM_007294.4:c.5161_5163del MANE Select	NP_009225.1:p.Gln1721del
NM_007297.4:c.5020_5022del	NP_009228.2:p.Gln1674del
NM_007299.4:c.1849_1851del	NP_009230.2:p.Gln617del
NM_007300.4:c.5224_5226del	NP_009231.2:p.Gln1742del
NR_027676.2:n.5338_5340del