Canonical Allele Identifier: CA002495

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 55033
• ClinVar RCV Id: RCV000577550 ; RCV000661121
• dbSNP Id: rs397509114
• MyVariant Identifiers: chr17:g.41243676_41243677insG (hg19) ; chr17:g.43091659_43091660insG (hg38)
• PubMed: PMID:8808710

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43091659_43091660insG , CM000679.2:g.43091659_43091660insG	GRCh38
NC_000017.10:g.41243676_41243677insG , CM000679.1:g.41243676_41243677insG	GRCh37
NC_000017.9:g.38497202_38497203insG	NCBI36
NG_005905.2:g.126324_126325insC , LRG_292:g.126324_126325insC

Transcript Alleles

HGVS	Amino-acid change
ENST00000354071.8:n.3935_3936insC
ENST00000461574.2:c.3871_3872insC	ENSP00000417241.2:p.Cys1291SerfsTer4
ENST00000470026.6:c.3871_3872insC	ENSP00000419274.2:p.Cys1291SerfsTer4
ENST00000473961.6:c.3745_3746insC	ENSP00000420201.2:p.Cys1249SerfsTer4
ENST00000476777.6:c.3868_3869insC	ENSP00000417554.2:p.Cys1290SerfsTer4
ENST00000477152.6:c.3793_3794insC	ENSP00000419988.2:p.Cys1265SerfsTer4
ENST00000478531.6:c.785-628_785-627insC	ENSP00000420412.2:n.785-628_785-627insC
ENST00000489037.2:c.3793_3794insC	ENSP00000420781.2:p.Cys1265SerfsTer4
ENST00000493919.6:c.647-628_647-627insC	ENSP00000418819.2:n.647-628_647-627insC
ENST00000494123.6:c.3871_3872insC	ENSP00000419103.2:p.Cys1291SerfsTer4
ENST00000497488.2:c.2983_2984insC	ENSP00000418986.2:p.Cys995SerfsTer4
ENST00000618469.2:c.3871_3872insC	ENSP00000478114.2:p.Cys1291SerfsTer4
ENST00000634433.2:c.3748_3749insC	ENSP00000489431.2:p.Cys1250SerfsTer4
ENST00000644379.2:c.3871_3872insC	ENSP00000496570.2:p.Cys1291SerfsTer4
ENST00000644555.2:c.647-628_647-627insC	ENSP00000494614.2:n.647-628_647-627insC
ENST00000652672.2:c.3730_3731insC	ENSP00000498906.2:p.Cys1244SerfsTer4
ENST00000484087.6:c.665-628_665-627insC	ENSP00000419481.2:n.665-628_665-627insC
ENST00000700182.1:c.707-628_707-627insC	ENSP00000514849.1:n.707-628_707-627insC
ENST00000357654.9:c.3871_3872insC MANE Select	ENSP00000350283.3:p.Cys1291SerfsTer4
ENST00000471181.7:c.3871_3872insC	ENSP00000418960.2:p.Cys1291SerfsTer4
ENST00000644379.1:c.192_193insC
ENST00000352993.7:c.671-628_671-627insC	ENSP00000312236.5:n.671-628_671-627insC
ENST00000354071.7:c.3871_3872insC	ENSP00000326002.7:p.Cys1291SerfsTer4
ENST00000357654.7:c.3871_3872insC	ENSP00000350283.3:p.Cys1291SerfsTer4
ENST00000461221.5:c.*3654_*3655insC	ENSP00000418548.1:n.*3654_*3655insC
ENST00000461574.1:c.165_166insC
ENST00000468300.5:c.788-628_788-627insC	ENSP00000417148.1:n.788-628_788-627insC
ENST00000471181.6:c.3871_3872insC	ENSP00000418960.2:p.Cys1291SerfsTer4
ENST00000478531.5:c.785-628_785-627insC	ENSP00000420412.1:n.785-628_785-627insC
ENST00000484087.5:c.410-628_410-627insC	ENSP00000419481.1:n.410-628_410-627insC
ENST00000487825.5:c.413-628_413-627insC	ENSP00000418212.1:n.413-628_413-627insC
ENST00000491747.6:c.788-628_788-627insC	ENSP00000420705.2:n.788-628_788-627insC
ENST00000493795.5:c.3730_3731insC	ENSP00000418775.1:p.Cys1244SerfsTer4
ENST00000493919.5:c.647-628_647-627insC	ENSP00000418819.1:n.647-628_647-627insC
ENST00000586385.5:c.5-27709_5-27708insC	ENSP00000465818.1:n.5-27709_5-27708insC
ENST00000591534.5:c.-43-17139_-43-17138insC	ENSP00000467329.1:n.-43-17139_-43-17138in...
ENST00000591849.5:c.-99+33611_-99+33612insC	ENSP00000465347.1:n.-99+33611_-99+33612in...
NM_007294.3:c.3871_3872insC , LRG_292t1:c.3871_3872insC	NP_009225.1:p.Cys1291SerfsTer4
NM_007297.3:c.3730_3731insC	NP_009228.2:p.Cys1244SerfsTer4
NM_007298.3:c.788-628_788-627insC	NP_009229.2:n.788-628_788-627insC
NM_007299.3:c.788-628_788-627insC	NP_009230.2:n.788-628_788-627insC
NM_007300.3:c.3871_3872insC	NP_009231.2:p.Cys1291SerfsTer4
NR_027676.1:n.4007_4008insC
NM_007294.4:c.3871_3872insC MANE Select	NP_009225.1:p.Cys1291SerfsTer4
NM_007297.4:c.3730_3731insC	NP_009228.2:p.Cys1244SerfsTer4
NM_007299.4:c.788-628_788-627insC	NP_009230.2:n.788-628_788-627insC
NM_007300.4:c.3871_3872insC	NP_009231.2:p.Cys1291SerfsTer4
NR_027676.2:n.4048_4049insC