Canonical Allele Identifier: CA001755

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 54641
• ClinVar RCV Id: RCV000577178 ; RCV000661028
• dbSNP Id: rs397508995
• MyVariant Identifiers: chr17:g.41244868_41244869del (hg19) ; chr17:g.43092851_43092852del (hg38)
• PubMed: PMID:21702907

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43092852_43092853del , CM000679.2:g.43092852_43092853del	GRCh38
NC_000017.10:g.41244869_41244870del , CM000679.1:g.41244869_41244870del	GRCh37
NC_000017.9:g.38498395_38498396del	NCBI36
NG_005905.2:g.125132_125133del , LRG_292:g.125132_125133del

Transcript Alleles

HGVS	Amino-acid change
ENST00000354071.8:n.2743_2744del
ENST00000461574.2:c.2679_2680del	ENSP00000417241.2:p.Lys894ThrfsTer8
ENST00000470026.6:c.2679_2680del	ENSP00000419274.2:p.Lys894ThrfsTer8
ENST00000473961.6:c.2553_2554del	ENSP00000420201.2:p.Lys852ThrfsTer8
ENST00000476777.6:c.2676_2677del	ENSP00000417554.2:p.Lys893ThrfsTer8
ENST00000477152.6:c.2601_2602del	ENSP00000419988.2:p.Lys868ThrfsTer8
ENST00000478531.6:c.785-1820_785-1819del	ENSP00000420412.2:n.785-1820_785-1819del
ENST00000489037.2:c.2601_2602del	ENSP00000420781.2:p.Lys868ThrfsTer8
ENST00000493919.6:c.647-1820_647-1819del	ENSP00000418819.2:n.647-1820_647-1819del
ENST00000494123.6:c.2679_2680del	ENSP00000419103.2:p.Lys894ThrfsTer8
ENST00000497488.2:c.1791_1792del	ENSP00000418986.2:p.Lys598ThrfsTer8
ENST00000618469.2:c.2679_2680del	ENSP00000478114.2:p.Lys894ThrfsTer8
ENST00000634433.2:c.2556_2557del	ENSP00000489431.2:p.Lys853ThrfsTer8
ENST00000644379.2:c.2679_2680del	ENSP00000496570.2:p.Lys894ThrfsTer8
ENST00000644555.2:c.647-1820_647-1819del	ENSP00000494614.2:n.647-1820_647-1819del
ENST00000652672.2:c.2538_2539del	ENSP00000498906.2:p.Lys847ThrfsTer8
ENST00000484087.6:c.665-1820_665-1819del	ENSP00000419481.2:n.665-1820_665-1819del
ENST00000700182.1:c.707-1820_707-1819del	ENSP00000514849.1:n.707-1820_707-1819del
ENST00000357654.9:c.2679_2680del MANE Select	ENSP00000350283.3:p.Lys894ThrfsTer8
ENST00000471181.7:c.2679_2680del	ENSP00000418960.2:p.Lys894ThrfsTer8
ENST00000352993.7:c.671-1820_671-1819del	ENSP00000312236.5:n.671-1820_671-1819del
ENST00000354071.7:c.2679_2680del	ENSP00000326002.7:p.Lys894ThrfsTer8
ENST00000357654.7:c.2679_2680del	ENSP00000350283.3:p.Lys894ThrfsTer8
ENST00000461221.5:c.*2462_*2463del	ENSP00000418548.1:n.*2462_*2463del
ENST00000468300.5:c.788-1820_788-1819del	ENSP00000417148.1:n.788-1820_788-1819del
ENST00000471181.6:c.2679_2680del	ENSP00000418960.2:p.Lys894ThrfsTer8
ENST00000478531.5:c.785-1820_785-1819del	ENSP00000420412.1:n.785-1820_785-1819del
ENST00000484087.5:c.410-1820_410-1819del	ENSP00000419481.1:n.410-1820_410-1819del
ENST00000487825.5:c.413-1820_413-1819del	ENSP00000418212.1:n.413-1820_413-1819del
ENST00000491747.6:c.788-1820_788-1819del	ENSP00000420705.2:n.788-1820_788-1819del
ENST00000493795.5:c.2538_2539del	ENSP00000418775.1:p.Lys847ThrfsTer8
ENST00000493919.5:c.647-1820_647-1819del	ENSP00000418819.1:n.647-1820_647-1819del
ENST00000586385.5:c.5-28901_5-28900del	ENSP00000465818.1:n.5-28901_5-28900del
ENST00000591534.5:c.-43-18331_-43-18330del	ENSP00000467329.1:n.-43-18331_-43-18330del
ENST00000591849.5:c.-99+32419_-99+32420del	ENSP00000465347.1:n.-99+32419_-99+32420del
NM_007294.3:c.2679_2680del , LRG_292t1:c.2679_2680del	NP_009225.1:p.Lys894ThrfsTer8
NM_007297.3:c.2538_2539del	NP_009228.2:p.Lys847ThrfsTer8
NM_007298.3:c.788-1820_788-1819del	NP_009229.2:n.788-1820_788-1819del
NM_007299.3:c.788-1820_788-1819del	NP_009230.2:n.788-1820_788-1819del
NM_007300.3:c.2679_2680del	NP_009231.2:p.Lys894ThrfsTer8
NR_027676.1:n.2815_2816del
NM_007294.4:c.2679_2680del MANE Select	NP_009225.1:p.Lys894ThrfsTer8
NM_007297.4:c.2538_2539del	NP_009228.2:p.Lys847ThrfsTer8
NM_007299.4:c.788-1820_788-1819del	NP_009230.2:n.788-1820_788-1819del
NM_007300.4:c.2679_2680del	NP_009231.2:p.Lys894ThrfsTer8
NR_027676.2:n.2856_2857del