Canonical Allele Identifier: CA2395757903
Gene: SLC25A1 HGNC NCBI

Linked Data

dbSNP Id: rs2083956572

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.19176168_19176179del , CM000684.2:g.19176168_19176179del GRCh38
NC_000022.10:g.19163681_19163692del , CM000684.1:g.19163681_19163692del GRCh37
NC_000022.9:g.17543681_17543692del NCBI36
NG_033863.1:g.7686_7697del

Transcript Alleles

HGVS Amino-acid Change
ENST00000215882.10:c.888_899del MANE Select ENSP00000215882.5:p.Ile296_Val300delinsMet
ENST00000215882.9:c.888_899del ENSP00000215882.5:p.Ile296_Val300delinsMet
ENST00000451283.5:c.579_590del ENSP00000401480.1:p.Ile193_Val197delinsMet
ENST00000470922.5:n.1030_1041del
NM_001256534.1:c.909_920del NP_001243463.1:p.Ile303_Val307delinsMet
NM_001287387.1:c.579_590del NP_001274316.1:p.Ile193_Val197delinsMet
NM_005984.4:c.888_899del NP_005975.1:p.Ile296_Val300delinsMet
NR_046298.2:n.939_950del
NM_005984.5:c.888_899del MANE Select NP_005975.1:p.Ile296_Val300delinsMet
NM_001256534.2:c.909_920del NP_001243463.1:p.Ile303_Val307delinsMet
NM_001287387.2:c.579_590del NP_001274316.1:p.Ile193_Val197delinsMet
NR_046298.3:n.812_823del