Canonical Allele Identifier: CA10589628

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 266515
• ClinVar RCV Id: RCV000256746 ; RCV000812457
• dbSNP Id: rs80357580
• MyVariant Identifiers: chr17:g.41219666_41219669dupTTAG (hg19) ; chr17:g.41219665_41219666insTTAG (hg19) ; chr17:g.43067649_43067652dupTTAG (hg38) ; chr17:g.43067648_43067649insTTAG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43067652_43067655dup , CM000679.2:g.43067652_43067655dup	GRCh38
NC_000017.10:g.41219669_41219672dup , CM000679.1:g.41219669_41219672dup	GRCh37
NC_000017.9:g.38473195_38473198dup	NCBI36
NG_005905.2:g.150332_150335dup , LRG_292:g.150332_150335dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.5027_5030dup	ENSP00000417241.2:p.Leu1678Ter
ENST00000470026.6:c.5030_5033dup	ENSP00000419274.2:p.Leu1679Ter
ENST00000473961.6:c.4904_4907dup	ENSP00000420201.2:p.Leu1637Ter
ENST00000476777.6:c.5024_5027dup	ENSP00000417554.2:p.Leu1677Ter
ENST00000477152.6:c.4952_4955dup	ENSP00000419988.2:p.Leu1653Ter
ENST00000478531.6:c.1718_1721dup	ENSP00000420412.2:p.Leu575Ter
ENST00000489037.2:c.4952_4955dup	ENSP00000420781.2:p.Leu1653Ter
ENST00000493919.6:c.1580_1583dup	ENSP00000418819.2:p.Leu529Ter
ENST00000494123.6:c.5030_5033dup	ENSP00000419103.2:p.Leu1679Ter
ENST00000497488.2:c.4142_4145dup	ENSP00000418986.2:p.Leu1383Ter
ENST00000618469.2:c.5030_5033dup	ENSP00000478114.2:p.Leu1679Ter
ENST00000634433.2:c.4907_4910dup	ENSP00000489431.2:p.Leu1638Ter
ENST00000644379.2:c.5096_5099dup	ENSP00000496570.2:p.Leu1701Ter
ENST00000644555.2:c.1580_1583dup	ENSP00000494614.2:p.Leu529Ter
ENST00000652672.2:c.4889_4892dup	ENSP00000498906.2:p.Leu1632Ter
ENST00000484087.6:c.1592_1595dup	ENSP00000419481.2:p.Leu533Ter
ENST00000357654.9:c.5030_5033dup MANE Select	ENSP00000350283.3:p.Leu1679Ter
ENST00000471181.7:c.5093_5096dup	ENSP00000418960.2:p.Leu1700Ter
ENST00000644379.1:c.1417_1420dup
ENST00000352993.7:c.1604_1607dup	ENSP00000312236.5:p.Leu537Ter
ENST00000357654.7:c.5030_5033dup	ENSP00000350283.3:p.Leu1679Ter
ENST00000461221.5:c.*4813_*4816dup	ENSP00000418548.1:n.*4813_*4816dup
ENST00000468300.5:c.1718_1721dup	ENSP00000417148.1:p.Leu575Ter
ENST00000471181.6:c.5093_5096dup	ENSP00000418960.2:p.Leu1700Ter
ENST00000472490.1:n.183_186dup
ENST00000478531.5:c.1718_1721dup	ENSP00000420412.1:p.Leu575Ter
ENST00000484087.5:c.1343_1346dup	ENSP00000419481.1:p.Leu450Ter
ENST00000491747.6:c.1718_1721dup	ENSP00000420705.2:p.Leu575Ter
ENST00000493795.5:c.4889_4892dup	ENSP00000418775.1:p.Leu1632Ter
ENST00000493919.5:c.1580_1583dup	ENSP00000418819.1:p.Leu529Ter
ENST00000586385.5:c.5-3701_5-3698dup	ENSP00000465818.1:n.5-3701_5-3698dup
ENST00000591534.5:c.503_506dup	ENSP00000467329.1:p.Leu170Ter
ENST00000591849.5:c.-98-17462_-98-17459dup	ENSP00000465347.1:n.-98-17462_-98-17459dup
NM_007294.3:c.5030_5033dup , LRG_292t1:c.5030_5033dup	NP_009225.1:p.Leu1679Ter
NM_007297.3:c.4889_4892dup	NP_009228.2:p.Leu1632Ter
NM_007298.3:c.1718_1721dup	NP_009229.2:p.Leu575Ter
NM_007299.3:c.1718_1721dup	NP_009230.2:p.Leu575Ter
NM_007300.3:c.5093_5096dup	NP_009231.2:p.Leu1700Ter
NR_027676.1:n.5166_5169dup
NM_007294.4:c.5030_5033dup MANE Select	NP_009225.1:p.Leu1679Ter
NM_007297.4:c.4889_4892dup	NP_009228.2:p.Leu1632Ter
NM_007299.4:c.1718_1721dup	NP_009230.2:p.Leu575Ter
NM_007300.4:c.5093_5096dup	NP_009231.2:p.Leu1700Ter
NR_027676.2:n.5207_5210dup