Canonical Allele Identifier: CA002427

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 54999
• ClinVar RCV Id: RCV000577432 ; RCV000661268
• dbSNP Id: rs397509104
• MyVariant Identifiers: chr17:g.41243770_41243777del (hg19) ; chr17:g.43091753_43091760del (hg38)
• PubMed: PMID:21120943

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43091753_43091760del , CM000679.2:g.43091753_43091760del	GRCh38
NC_000017.10:g.41243770_41243777del , CM000679.1:g.41243770_41243777del	GRCh37
NC_000017.9:g.38497296_38497303del	NCBI36
NG_005905.2:g.126224_126231del , LRG_292:g.126224_126231del

Transcript Alleles

HGVS	Amino-acid change
ENST00000354071.8:n.3835_3842del
ENST00000461574.2:c.3771_3778del	ENSP00000417241.2:p.Glu1257AspfsTer7
ENST00000470026.6:c.3771_3778del	ENSP00000419274.2:p.Glu1257AspfsTer7
ENST00000473961.6:c.3645_3652del	ENSP00000420201.2:p.Glu1215AspfsTer7
ENST00000476777.6:c.3768_3775del	ENSP00000417554.2:p.Glu1256AspfsTer7
ENST00000477152.6:c.3693_3700del	ENSP00000419988.2:p.Glu1231AspfsTer7
ENST00000478531.6:c.785-728_785-721del	ENSP00000420412.2:n.785-728_785-721del
ENST00000489037.2:c.3693_3700del	ENSP00000420781.2:p.Glu1231AspfsTer7
ENST00000493919.6:c.647-728_647-721del	ENSP00000418819.2:n.647-728_647-721del
ENST00000494123.6:c.3771_3778del	ENSP00000419103.2:p.Glu1257AspfsTer7
ENST00000497488.2:c.2883_2890del	ENSP00000418986.2:p.Glu961AspfsTer7
ENST00000618469.2:c.3771_3778del	ENSP00000478114.2:p.Glu1257AspfsTer7
ENST00000634433.2:c.3648_3655del	ENSP00000489431.2:p.Glu1216AspfsTer7
ENST00000644379.2:c.3771_3778del	ENSP00000496570.2:p.Glu1257AspfsTer7
ENST00000644555.2:c.647-728_647-721del	ENSP00000494614.2:n.647-728_647-721del
ENST00000652672.2:c.3630_3637del	ENSP00000498906.2:p.Glu1210AspfsTer7
ENST00000484087.6:c.665-728_665-721del	ENSP00000419481.2:n.665-728_665-721del
ENST00000700182.1:c.707-728_707-721del	ENSP00000514849.1:n.707-728_707-721del
ENST00000357654.9:c.3771_3778del MANE Select	ENSP00000350283.3:p.Glu1257AspfsTer7
ENST00000471181.7:c.3771_3778del	ENSP00000418960.2:p.Glu1257AspfsTer7
ENST00000644379.1:c.92_99del
ENST00000352993.7:c.671-728_671-721del	ENSP00000312236.5:n.671-728_671-721del
ENST00000354071.7:c.3771_3778del	ENSP00000326002.7:p.Glu1257AspfsTer7
ENST00000357654.7:c.3771_3778del	ENSP00000350283.3:p.Glu1257AspfsTer7
ENST00000461221.5:c.*3554_*3561del	ENSP00000418548.1:n.*3554_*3561del
ENST00000461574.1:c.65_72del
ENST00000468300.5:c.788-728_788-721del	ENSP00000417148.1:n.788-728_788-721del
ENST00000471181.6:c.3771_3778del	ENSP00000418960.2:p.Glu1257AspfsTer7
ENST00000478531.5:c.785-728_785-721del	ENSP00000420412.1:n.785-728_785-721del
ENST00000484087.5:c.410-728_410-721del	ENSP00000419481.1:n.410-728_410-721del
ENST00000487825.5:c.413-728_413-721del	ENSP00000418212.1:n.413-728_413-721del
ENST00000491747.6:c.788-728_788-721del	ENSP00000420705.2:n.788-728_788-721del
ENST00000493795.5:c.3630_3637del	ENSP00000418775.1:p.Glu1210AspfsTer7
ENST00000493919.5:c.647-728_647-721del	ENSP00000418819.1:n.647-728_647-721del
ENST00000586385.5:c.5-27809_5-27802del	ENSP00000465818.1:n.5-27809_5-27802del
ENST00000591534.5:c.-43-17239_-43-17232del	ENSP00000467329.1:n.-43-17239_-43-17232de...
ENST00000591849.5:c.-99+33511_-99+33518del	ENSP00000465347.1:n.-99+33511_-99+33518de...
NM_007294.3:c.3771_3778del , LRG_292t1:c.3771_3778del	NP_009225.1:p.Glu1257AspfsTer7
NM_007297.3:c.3630_3637del	NP_009228.2:p.Glu1210AspfsTer7
NM_007298.3:c.788-728_788-721del	NP_009229.2:n.788-728_788-721del
NM_007299.3:c.788-728_788-721del	NP_009230.2:n.788-728_788-721del
NM_007300.3:c.3771_3778del	NP_009231.2:p.Glu1257AspfsTer7
NR_027676.1:n.3907_3914del
NM_007294.4:c.3771_3778del MANE Select	NP_009225.1:p.Glu1257AspfsTer7
NM_007297.4:c.3630_3637del	NP_009228.2:p.Glu1210AspfsTer7
NM_007299.4:c.788-728_788-721del	NP_009230.2:n.788-728_788-721del
NM_007300.4:c.3771_3778del	NP_009231.2:p.Glu1257AspfsTer7
NR_027676.2:n.3948_3955del