Canonical Allele Identifier: CA002945

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 55250
• ClinVar RCV Id: RCV000661328
• dbSNP Id: rs397509186
• MyVariant Identifiers: chr17:g.41226358_41226377del (hg19) ; chr17:g.43074341_43074360del (hg38)
• PubMed: PMID:20804917

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43074343_43074362del , CM000679.2:g.43074343_43074362del	GRCh38
NC_000017.10:g.41226360_41226379del , CM000679.1:g.41226360_41226379del	GRCh37
NC_000017.9:g.38479886_38479905del	NCBI36
NG_005905.2:g.143624_143643del , LRG_292:g.143624_143643del

Transcript Alleles

HGVS	Amino-acid change
ENST00000461574.2:c.4643_4662del	ENSP00000417241.2:p.Glu1548AlafsTer18
ENST00000470026.6:c.4646_4665del	ENSP00000419274.2:p.Glu1549AlafsTer18
ENST00000473961.6:c.4520_4539del	ENSP00000420201.2:p.Glu1507AlafsTer18
ENST00000476777.6:c.4640_4659del	ENSP00000417554.2:p.Glu1547AlafsTer18
ENST00000477152.6:c.4568_4587del	ENSP00000419988.2:p.Glu1523AlafsTer18
ENST00000478531.6:c.1334_1353del	ENSP00000420412.2:p.Glu445AlafsTer18
ENST00000489037.2:c.4568_4587del	ENSP00000420781.2:p.Glu1523AlafsTer18
ENST00000493919.6:c.1196_1215del	ENSP00000418819.2:p.Glu399AlafsTer18
ENST00000494123.6:c.4646_4665del	ENSP00000419103.2:p.Glu1549AlafsTer18
ENST00000497488.2:c.3758_3777del	ENSP00000418986.2:p.Glu1253AlafsTer18
ENST00000618469.2:c.4646_4665del	ENSP00000478114.2:p.Glu1549AlafsTer18
ENST00000634433.2:c.4523_4542del	ENSP00000489431.2:p.Glu1508AlafsTer18
ENST00000644379.2:c.4712_4731del	ENSP00000496570.2:p.Glu1571AlafsTer18
ENST00000644555.2:c.1196_1215del	ENSP00000494614.2:p.Glu399AlafsTer18
ENST00000652672.2:c.4505_4524del	ENSP00000498906.2:p.Glu1502AlafsTer18
ENST00000484087.6:c.1208_1227del	ENSP00000419481.2:p.Glu403AlafsTer18
ENST00000700182.1:c.1253_1272del	ENSP00000514849.1:p.Glu418AlafsTer18
ENST00000357654.9:c.4646_4665del MANE Select	ENSP00000350283.3:p.Glu1549AlafsTer18
ENST00000471181.7:c.4709_4728del	ENSP00000418960.2:p.Glu1570AlafsTer18
ENST00000644379.1:c.1033_1052del
ENST00000352993.7:c.1220_1239del	ENSP00000312236.5:p.Glu407AlafsTer18
ENST00000357654.7:c.4646_4665del	ENSP00000350283.3:p.Glu1549AlafsTer18
ENST00000461221.5:c.*4429_*4448del	ENSP00000418548.1:n.*4429_*4448del
ENST00000468300.5:c.1334_1353del	ENSP00000417148.1:p.Glu445AlafsTer18
ENST00000471181.6:c.4709_4728del	ENSP00000418960.2:p.Glu1570AlafsTer18
ENST00000478531.5:c.1334_1353del	ENSP00000420412.1:p.Glu445AlafsTer18
ENST00000484087.5:c.959_978del	ENSP00000419481.1:p.Glu320AlafsTer18
ENST00000491747.6:c.1334_1353del	ENSP00000420705.2:p.Glu445AlafsTer18
ENST00000493795.5:c.4505_4524del	ENSP00000418775.1:p.Glu1502AlafsTer18
ENST00000493919.5:c.1196_1215del	ENSP00000418819.1:p.Glu399AlafsTer18
ENST00000586385.5:c.5-10409_5-10390del	ENSP00000465818.1:n.5-10409_5-10390del
ENST00000591534.5:c.119_138del	ENSP00000467329.1:p.Glu40AlafsTer18
ENST00000591849.5:c.-98-24170_-98-24151del	ENSP00000465347.1:n.-98-24170_-98-24151del
NM_007294.3:c.4646_4665del , LRG_292t1:c.4646_4665del	NP_009225.1:p.Glu1549AlafsTer18
NM_007297.3:c.4505_4524del	NP_009228.2:p.Glu1502AlafsTer18
NM_007298.3:c.1334_1353del	NP_009229.2:p.Glu445AlafsTer18
NM_007299.3:c.1334_1353del	NP_009230.2:p.Glu445AlafsTer18
NM_007300.3:c.4709_4728del	NP_009231.2:p.Glu1570AlafsTer18
NR_027676.1:n.4782_4801del
NM_007294.4:c.4646_4665del MANE Select	NP_009225.1:p.Glu1549AlafsTer18
NM_007297.4:c.4505_4524del	NP_009228.2:p.Glu1502AlafsTer18
NM_007299.4:c.1334_1353del	NP_009230.2:p.Glu445AlafsTer18
NM_007300.4:c.4709_4728del	NP_009231.2:p.Glu1570AlafsTer18
NR_027676.2:n.4823_4842del