Canonical Allele Identifier: CA10585938

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 252433
• ClinVar RCV Id: RCV000238997 ; RCV000661252
• dbSNP Id: rs879255317
• MyVariant Identifiers: chr17:g.41228616_41228617del (hg19) ; chr17:g.43076599_43076600del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43076601_43076602del , CM000679.2:g.43076601_43076602del	GRCh38
NC_000017.10:g.41228618_41228619del , CM000679.1:g.41228618_41228619del	GRCh37
NC_000017.9:g.38482144_38482145del	NCBI36
NG_005905.2:g.141384_141385del , LRG_292:g.141384_141385del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.4369_4370del	ENSP00000417241.2:p.Gln1457GlufsTer3
ENST00000470026.6:c.4372_4373del	ENSP00000419274.2:p.Gln1458GlufsTer3
ENST00000473961.6:c.4246_4247del	ENSP00000420201.2:p.Gln1416GlufsTer3
ENST00000476777.6:c.4366_4367del	ENSP00000417554.2:p.Gln1456GlufsTer3
ENST00000477152.6:c.4294_4295del	ENSP00000419988.2:p.Gln1432GlufsTer3
ENST00000478531.6:c.1060_1061del	ENSP00000420412.2:p.Gln354GlufsTer3
ENST00000489037.2:c.4294_4295del	ENSP00000420781.2:p.Gln1432GlufsTer3
ENST00000493919.6:c.922_923del	ENSP00000418819.2:p.Gln308GlufsTer3
ENST00000494123.6:c.4372_4373del	ENSP00000419103.2:p.Gln1458GlufsTer3
ENST00000497488.2:c.3484_3485del	ENSP00000418986.2:p.Gln1162GlufsTer3
ENST00000618469.2:c.4372_4373del	ENSP00000478114.2:p.Gln1458GlufsTer3
ENST00000634433.2:c.4249_4250del	ENSP00000489431.2:p.Gln1417GlufsTer3
ENST00000644379.2:c.4438_4439del	ENSP00000496570.2:p.Gln1480GlufsTer3
ENST00000644555.2:c.922_923del	ENSP00000494614.2:p.Gln308GlufsTer3
ENST00000652672.2:c.4231_4232del	ENSP00000498906.2:p.Gln1411GlufsTer3
ENST00000484087.6:c.934_935del	ENSP00000419481.2:p.Gln312GlufsTer3
ENST00000700182.1:c.979_980del	ENSP00000514849.1:p.Gln327GlufsTer3
ENST00000357654.9:c.4372_4373del MANE Select	ENSP00000350283.3:p.Gln1458GlufsTer3
ENST00000471181.7:c.4435_4436del	ENSP00000418960.2:p.Gln1479GlufsTer3
ENST00000644379.1:c.759_760del
ENST00000352993.7:c.946_947del	ENSP00000312236.5:p.Gln316GlufsTer3
ENST00000357654.7:c.4372_4373del	ENSP00000350283.3:p.Gln1458GlufsTer3
ENST00000461221.5:c.*4155_*4156del	ENSP00000418548.1:n.*4155_*4156del
ENST00000461574.1:c.663_664del
ENST00000468300.5:c.1060_1061del	ENSP00000417148.1:p.Gln354GlufsTer3
ENST00000471181.6:c.4435_4436del	ENSP00000418960.2:p.Gln1479GlufsTer3
ENST00000478531.5:c.1060_1061del	ENSP00000420412.1:p.Gln354GlufsTer3
ENST00000484087.5:c.685_686del	ENSP00000419481.1:p.Gln229GlufsTer3
ENST00000487825.5:c.688_689del	ENSP00000418212.1:p.Gln230GlufsTer3
ENST00000491747.6:c.1060_1061del	ENSP00000420705.2:p.Gln354GlufsTer3
ENST00000493795.5:c.4231_4232del	ENSP00000418775.1:p.Gln1411GlufsTer3
ENST00000493919.5:c.922_923del	ENSP00000418819.1:p.Gln308GlufsTer3
ENST00000586385.5:c.5-12649_5-12648del	ENSP00000465818.1:n.5-12649_5-12648del
ENST00000591534.5:c.-43-2079_-43-2078del	ENSP00000467329.1:n.-43-2079_-43-2078del
ENST00000591849.5:c.-98-26410_-98-26409del	ENSP00000465347.1:n.-98-26410_-98-26409del
ENST00000621897.1:n.263_264del
NM_007294.3:c.4372_4373del , LRG_292t1:c.4372_4373del	NP_009225.1:p.Gln1458GlufsTer3
NM_007297.3:c.4231_4232del	NP_009228.2:p.Gln1411GlufsTer3
NM_007298.3:c.1060_1061del	NP_009229.2:p.Gln354GlufsTer3
NM_007299.3:c.1060_1061del	NP_009230.2:p.Gln354GlufsTer3
NM_007300.3:c.4435_4436del	NP_009231.2:p.Gln1479GlufsTer3
NR_027676.1:n.4508_4509del
NM_007294.4:c.4372_4373del MANE Select	NP_009225.1:p.Gln1458GlufsTer3
NM_007297.4:c.4231_4232del	NP_009228.2:p.Gln1411GlufsTer3
NM_007299.4:c.1060_1061del	NP_009230.2:p.Gln354GlufsTer3
NM_007300.4:c.4435_4436del	NP_009231.2:p.Gln1479GlufsTer3
NR_027676.2:n.4549_4550del