Canonical Allele Identifier: CA002410

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 37544
• ClinVar RCV Id: RCV000031125 ; RCV000223389 ; RCV000254638 ; RCV000587721 ; RCV002482929
• dbSNP Id: rs80357520
• MyVariant Identifiers: chr17:g.41243788_41243789del (hg19) ; chr17:g.43091771_43091772del (hg38)
• PubMed: PMID:16267036 ; PMID:18159056 ; PMID:22430266 ; PMID:23961350 ; PMID:25256238 ; PMID:25628955 ; PMID:25716084 ; PMID:26295337

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43091771_43091772del , CM000679.2:g.43091771_43091772del	GRCh38
NC_000017.10:g.41243788_41243789del , CM000679.1:g.41243788_41243789del	GRCh37
NC_000017.9:g.38497314_38497315del	NCBI36
NG_005905.2:g.126212_126213del , LRG_292:g.126212_126213del

Transcript Alleles

HGVS	Amino-acid change
ENST00000354071.8:n.3823_3824del
ENST00000461574.2:c.3759_3760del	ENSP00000417241.2:p.Lys1254GlufsTer12
ENST00000470026.6:c.3759_3760del	ENSP00000419274.2:p.Lys1254GlufsTer12
ENST00000473961.6:c.3633_3634del	ENSP00000420201.2:p.Lys1212GlufsTer12
ENST00000476777.6:c.3756_3757del	ENSP00000417554.2:p.Lys1253GlufsTer12
ENST00000477152.6:c.3681_3682del	ENSP00000419988.2:p.Lys1228GlufsTer12
ENST00000478531.6:c.785-740_785-739del	ENSP00000420412.2:n.785-740_785-739del
ENST00000489037.2:c.3681_3682del	ENSP00000420781.2:p.Lys1228GlufsTer12
ENST00000493919.6:c.647-740_647-739del	ENSP00000418819.2:n.647-740_647-739del
ENST00000494123.6:c.3759_3760del	ENSP00000419103.2:p.Lys1254GlufsTer12
ENST00000497488.2:c.2871_2872del	ENSP00000418986.2:p.Lys958GlufsTer12
ENST00000618469.2:c.3759_3760del	ENSP00000478114.2:p.Lys1254GlufsTer12
ENST00000634433.2:c.3636_3637del	ENSP00000489431.2:p.Lys1213GlufsTer12
ENST00000644379.2:c.3759_3760del	ENSP00000496570.2:p.Lys1254GlufsTer12
ENST00000644555.2:c.647-740_647-739del	ENSP00000494614.2:n.647-740_647-739del
ENST00000652672.2:c.3618_3619del	ENSP00000498906.2:p.Lys1207GlufsTer12
ENST00000484087.6:c.665-740_665-739del	ENSP00000419481.2:n.665-740_665-739del
ENST00000700182.1:c.707-740_707-739del	ENSP00000514849.1:n.707-740_707-739del
ENST00000357654.9:c.3759_3760del MANE Select	ENSP00000350283.3:p.Lys1254GlufsTer12
ENST00000471181.7:c.3759_3760del	ENSP00000418960.2:p.Lys1254GlufsTer12
ENST00000644379.1:c.80_81del
ENST00000352993.7:c.671-740_671-739del	ENSP00000312236.5:n.671-740_671-739del
ENST00000354071.7:c.3759_3760del	ENSP00000326002.7:p.Lys1254GlufsTer12
ENST00000357654.7:c.3759_3760del	ENSP00000350283.3:p.Lys1254GlufsTer12
ENST00000461221.5:c.*3542_*3543del	ENSP00000418548.1:n.*3542_*3543del
ENST00000461574.1:c.53_54del
ENST00000468300.5:c.788-740_788-739del	ENSP00000417148.1:n.788-740_788-739del
ENST00000471181.6:c.3759_3760del	ENSP00000418960.2:p.Lys1254GlufsTer12
ENST00000478531.5:c.785-740_785-739del	ENSP00000420412.1:n.785-740_785-739del
ENST00000484087.5:c.410-740_410-739del	ENSP00000419481.1:n.410-740_410-739del
ENST00000487825.5:c.413-740_413-739del	ENSP00000418212.1:n.413-740_413-739del
ENST00000491747.6:c.788-740_788-739del	ENSP00000420705.2:n.788-740_788-739del
ENST00000493795.5:c.3618_3619del	ENSP00000418775.1:p.Lys1207GlufsTer12
ENST00000493919.5:c.647-740_647-739del	ENSP00000418819.1:n.647-740_647-739del
ENST00000586385.5:c.5-27821_5-27820del	ENSP00000465818.1:n.5-27821_5-27820del
ENST00000591534.5:c.-43-17251_-43-17250del	ENSP00000467329.1:n.-43-17251_-43-17250de...
ENST00000591849.5:c.-99+33499_-99+33500del	ENSP00000465347.1:n.-99+33499_-99+33500de...
NM_007294.3:c.3759_3760del , LRG_292t1:c.3759_3760del	NP_009225.1:p.Lys1254GlufsTer12
NM_007297.3:c.3618_3619del	NP_009228.2:p.Lys1207GlufsTer12
NM_007298.3:c.788-740_788-739del	NP_009229.2:n.788-740_788-739del
NM_007299.3:c.788-740_788-739del	NP_009230.2:n.788-740_788-739del
NM_007300.3:c.3759_3760del	NP_009231.2:p.Lys1254GlufsTer12
NR_027676.1:n.3895_3896del
NM_007294.4:c.3759_3760del MANE Select	NP_009225.1:p.Lys1254GlufsTer12
NM_007297.4:c.3618_3619del	NP_009228.2:p.Lys1207GlufsTer12
NM_007299.4:c.788-740_788-739del	NP_009230.2:n.788-740_788-739del
NM_007300.4:c.3759_3760del	NP_009231.2:p.Lys1254GlufsTer12
NR_027676.2:n.3936_3937del