Canonical Allele Identifier: CA658823947

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 548228
• ClinVar RCV Id: RCV000661114
• dbSNP Id: rs1555587165
• MyVariant Identifiers: chr17:g.41243799_41243800insG (hg19) ; chr17:g.43091782_43091783insG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43091782_43091783insG , CM000679.2:g.43091782_43091783insG	GRCh38
NC_000017.10:g.41243799_41243800insG , CM000679.1:g.41243799_41243800insG	GRCh37
NC_000017.9:g.38497325_38497326insG	NCBI36
NG_005905.2:g.126201_126202insC , LRG_292:g.126201_126202insC

Transcript Alleles

HGVS	Amino-acid change
ENST00000354071.8:n.3812_3813insC
ENST00000461574.2:c.3748_3749insC	ENSP00000417241.2:p.Glu1250AlafsTer5
ENST00000470026.6:c.3748_3749insC	ENSP00000419274.2:p.Glu1250AlafsTer5
ENST00000473961.6:c.3622_3623insC	ENSP00000420201.2:p.Glu1208AlafsTer5
ENST00000476777.6:c.3745_3746insC	ENSP00000417554.2:p.Glu1249AlafsTer5
ENST00000477152.6:c.3670_3671insC	ENSP00000419988.2:p.Glu1224AlafsTer5
ENST00000478531.6:c.785-751_785-750insC	ENSP00000420412.2:n.785-751_785-750insC
ENST00000489037.2:c.3670_3671insC	ENSP00000420781.2:p.Glu1224AlafsTer5
ENST00000493919.6:c.647-751_647-750insC	ENSP00000418819.2:n.647-751_647-750insC
ENST00000494123.6:c.3748_3749insC	ENSP00000419103.2:p.Glu1250AlafsTer5
ENST00000497488.2:c.2860_2861insC	ENSP00000418986.2:p.Glu954AlafsTer5
ENST00000618469.2:c.3748_3749insC	ENSP00000478114.2:p.Glu1250AlafsTer5
ENST00000634433.2:c.3625_3626insC	ENSP00000489431.2:p.Glu1209AlafsTer5
ENST00000644379.2:c.3748_3749insC	ENSP00000496570.2:p.Glu1250AlafsTer5
ENST00000644555.2:c.647-751_647-750insC	ENSP00000494614.2:n.647-751_647-750insC
ENST00000652672.2:c.3607_3608insC	ENSP00000498906.2:p.Glu1203AlafsTer5
ENST00000484087.6:c.665-751_665-750insC	ENSP00000419481.2:n.665-751_665-750insC
ENST00000700182.1:c.707-751_707-750insC	ENSP00000514849.1:n.707-751_707-750insC
ENST00000357654.9:c.3748_3749insC MANE Select	ENSP00000350283.3:p.Glu1250AlafsTer5
ENST00000471181.7:c.3748_3749insC	ENSP00000418960.2:p.Glu1250AlafsTer5
ENST00000644379.1:c.69_70insC
ENST00000352993.7:c.671-751_671-750insC	ENSP00000312236.5:n.671-751_671-750insC
ENST00000354071.7:c.3748_3749insC	ENSP00000326002.7:p.Glu1250AlafsTer5
ENST00000357654.7:c.3748_3749insC	ENSP00000350283.3:p.Glu1250AlafsTer5
ENST00000461221.5:c.*3531_*3532insC	ENSP00000418548.1:n.*3531_*3532insC
ENST00000461574.1:c.42_43insC
ENST00000468300.5:c.788-751_788-750insC	ENSP00000417148.1:n.788-751_788-750insC
ENST00000471181.6:c.3748_3749insC	ENSP00000418960.2:p.Glu1250AlafsTer5
ENST00000478531.5:c.785-751_785-750insC	ENSP00000420412.1:n.785-751_785-750insC
ENST00000484087.5:c.410-751_410-750insC	ENSP00000419481.1:n.410-751_410-750insC
ENST00000487825.5:c.413-751_413-750insC	ENSP00000418212.1:n.413-751_413-750insC
ENST00000491747.6:c.788-751_788-750insC	ENSP00000420705.2:n.788-751_788-750insC
ENST00000493795.5:c.3607_3608insC	ENSP00000418775.1:p.Glu1203AlafsTer5
ENST00000493919.5:c.647-751_647-750insC	ENSP00000418819.1:n.647-751_647-750insC
ENST00000586385.5:c.5-27832_5-27831insC	ENSP00000465818.1:n.5-27832_5-27831insC
ENST00000591534.5:c.-43-17262_-43-17261insC	ENSP00000467329.1:n.-43-17262_-43-17261in...
ENST00000591849.5:c.-99+33488_-99+33489insC	ENSP00000465347.1:n.-99+33488_-99+33489in...
NM_007294.3:c.3748_3749insC , LRG_292t1:c.3748_3749insC	NP_009225.1:p.Glu1250AlafsTer5
NM_007297.3:c.3607_3608insC	NP_009228.2:p.Glu1203AlafsTer5
NM_007298.3:c.788-751_788-750insC	NP_009229.2:n.788-751_788-750insC
NM_007299.3:c.788-751_788-750insC	NP_009230.2:n.788-751_788-750insC
NM_007300.3:c.3748_3749insC	NP_009231.2:p.Glu1250AlafsTer5
NR_027676.1:n.3884_3885insC
NM_007294.4:c.3748_3749insC MANE Select	NP_009225.1:p.Glu1250AlafsTer5
NM_007297.4:c.3607_3608insC	NP_009228.2:p.Glu1203AlafsTer5
NM_007299.4:c.788-751_788-750insC	NP_009230.2:n.788-751_788-750insC
NM_007300.4:c.3748_3749insC	NP_009231.2:p.Glu1250AlafsTer5
NR_027676.2:n.3925_3926insC