LDH info

Canonical Allele Identifier: CA658823947
Gene: BRCA1 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 548228
ClinVar RCV Id: RCV000661114
dbSNP Id: rs1555587165

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
NM_007294.3:c.3748_3749insC , LRG_292t1:c.3748_3749insC NP_009225.1:p.Glu1250AlafsTer5
NM_007297.3:c.3607_3608insC VV NP_009228.2:p.Glu1203AlafsTer5
NM_007298.3:c.788-751_788-750insC VV NP_009229.2:p.=
NM_007299.3:c.788-751_788-750insC VV NP_009230.2:p.=
NM_007300.3:c.3748_3749insC VV NP_009231.2:p.Glu1250AlafsTer5
NR_027676.1:n.3884_3885insC
NM_007294.4:c.3748_3749insC VV MANE Preferred NP_009225.1:p.Glu1250AlafsTer5
NM_007297.4:c.3607_3608insC VV NP_009228.2:p.Glu1203AlafsTer5
NM_007299.4:c.788-751_788-750insC VV NP_009230.2:p.=
NM_007300.4:c.3748_3749insC VV NP_009231.2:p.Glu1250AlafsTer5
NR_027676.2:n.3925_3926insC
ENST00000352993.7:c.671-751_671-750insC ENSP00000312236.5:p.=
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:p.=
ENST00000461574.1:n.42_43insC
ENST00000468300.5:c.788-751_788-750insC ENSP00000417148.1:p.=
ENST00000471181.6:c.3748_3749insC ENSP00000418960.2:p.Glu1250AlafsTer5
ENST00000478531.5:c.785-751_785-750insC ENSP00000420412.1:p.=
ENST00000484087.5:n.410-751_410-750insC ENSP00000419481.1:p.=
ENST00000487825.5:n.413-751_413-750insC ENSP00000418212.1:p.=
ENST00000491747.6:c.788-751_788-750insC ENSP00000420705.2:p.=
ENST00000493795.5:c.3607_3608insC ENSP00000418775.1:p.Glu1203AlafsTer5
ENST00000493919.5:c.647-751_647-750insC ENSP00000418819.1:p.=
ENST00000586385.5:c.5-27832_5-27831insC ENSP00000465818.1:p.=
ENST00000591534.5:c.-43-17262_-43-17261insC ENSP00000467329.1:p.=
ENST00000591849.5:c.-99+33488_-99+33489insC ENSP00000465347.1:p.=