Canonical Allele Identifier: CA002585

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 125661
• ClinVar RCV Id: RCV000112233
• dbSNP Id: rs483353092
• MyVariant Identifiers: chr17:g.41243497_41243498insC (hg19) ; chr17:g.43091480_43091481insC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43091480_43091481insC , CM000679.2:g.43091480_43091481insC	GRCh38
NC_000017.10:g.41243497_41243498insC , CM000679.1:g.41243497_41243498insC	GRCh37
NC_000017.9:g.38497023_38497024insC	NCBI36
NG_005905.2:g.126503_126504insG , LRG_292:g.126503_126504insG

Transcript Alleles

HGVS	Amino-acid change
ENST00000354071.8:n.4114_4115insG
ENST00000461574.2:c.4050_4051insG	ENSP00000417241.2:p.Leu1351ValfsTer5
ENST00000470026.6:c.4050_4051insG	ENSP00000419274.2:p.Leu1351ValfsTer5
ENST00000473961.6:c.3924_3925insG	ENSP00000420201.2:p.Leu1309ValfsTer5
ENST00000476777.6:c.4047_4048insG	ENSP00000417554.2:p.Leu1350ValfsTer5
ENST00000477152.6:c.3972_3973insG	ENSP00000419988.2:p.Leu1325ValfsTer5
ENST00000478531.6:c.785-449_785-448insG	ENSP00000420412.2:n.785-449_785-448insG
ENST00000489037.2:c.3972_3973insG	ENSP00000420781.2:p.Leu1325ValfsTer5
ENST00000493919.6:c.647-449_647-448insG	ENSP00000418819.2:n.647-449_647-448insG
ENST00000494123.6:c.4050_4051insG	ENSP00000419103.2:p.Leu1351ValfsTer5
ENST00000497488.2:c.3162_3163insG	ENSP00000418986.2:p.Leu1055ValfsTer5
ENST00000618469.2:c.4050_4051insG	ENSP00000478114.2:p.Leu1351ValfsTer5
ENST00000634433.2:c.3927_3928insG	ENSP00000489431.2:p.Leu1310ValfsTer5
ENST00000644379.2:c.4050_4051insG	ENSP00000496570.2:p.Leu1351ValfsTer5
ENST00000644555.2:c.647-449_647-448insG	ENSP00000494614.2:n.647-449_647-448insG
ENST00000652672.2:c.3909_3910insG	ENSP00000498906.2:p.Leu1304ValfsTer5
ENST00000484087.6:c.665-449_665-448insG	ENSP00000419481.2:n.665-449_665-448insG
ENST00000700182.1:c.707-449_707-448insG	ENSP00000514849.1:n.707-449_707-448insG
ENST00000357654.9:c.4050_4051insG MANE Select	ENSP00000350283.3:p.Leu1351ValfsTer5
ENST00000471181.7:c.4050_4051insG	ENSP00000418960.2:p.Leu1351ValfsTer5
ENST00000644379.1:c.371_372insG
ENST00000352993.7:c.671-449_671-448insG	ENSP00000312236.5:n.671-449_671-448insG
ENST00000354071.7:c.4050_4051insG	ENSP00000326002.7:p.Leu1351ValfsTer5
ENST00000357654.7:c.4050_4051insG	ENSP00000350283.3:p.Leu1351ValfsTer5
ENST00000461221.5:c.*3833_*3834insG	ENSP00000418548.1:n.*3833_*3834insG
ENST00000461574.1:c.344_345insG
ENST00000468300.5:c.788-449_788-448insG	ENSP00000417148.1:n.788-449_788-448insG
ENST00000471181.6:c.4050_4051insG	ENSP00000418960.2:p.Leu1351ValfsTer5
ENST00000478531.5:c.785-449_785-448insG	ENSP00000420412.1:n.785-449_785-448insG
ENST00000484087.5:c.410-449_410-448insG	ENSP00000419481.1:n.410-449_410-448insG
ENST00000487825.5:c.413-449_413-448insG	ENSP00000418212.1:n.413-449_413-448insG
ENST00000491747.6:c.788-449_788-448insG	ENSP00000420705.2:n.788-449_788-448insG
ENST00000493795.5:c.3909_3910insG	ENSP00000418775.1:p.Leu1304ValfsTer5
ENST00000493919.5:c.647-449_647-448insG	ENSP00000418819.1:n.647-449_647-448insG
ENST00000586385.5:c.5-27530_5-27529insG	ENSP00000465818.1:n.5-27530_5-27529insG
ENST00000591534.5:c.-43-16960_-43-16959insG	ENSP00000467329.1:n.-43-16960_-43-16959in...
ENST00000591849.5:c.-99+33790_-99+33791insG	ENSP00000465347.1:n.-99+33790_-99+33791in...
NM_007294.3:c.4050_4051insG , LRG_292t1:c.4050_4051insG	NP_009225.1:p.Leu1351ValfsTer5
NM_007297.3:c.3909_3910insG	NP_009228.2:p.Leu1304ValfsTer5
NM_007298.3:c.788-449_788-448insG	NP_009229.2:n.788-449_788-448insG
NM_007299.3:c.788-449_788-448insG	NP_009230.2:n.788-449_788-448insG
NM_007300.3:c.4050_4051insG	NP_009231.2:p.Leu1351ValfsTer5
NR_027676.1:n.4186_4187insG
NM_007294.4:c.4050_4051insG MANE Select	NP_009225.1:p.Leu1351ValfsTer5
NM_007297.4:c.3909_3910insG	NP_009228.2:p.Leu1304ValfsTer5
NM_007299.4:c.788-449_788-448insG	NP_009230.2:n.788-449_788-448insG
NM_007300.4:c.4050_4051insG	NP_009231.2:p.Leu1351ValfsTer5
NR_027676.2:n.4227_4228insG