Canonical Allele Identifier: CA2395757902

Gene: SLC25A1

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19176166_19176178delinsCACTTCATCATAG , CM000684.2:g.19176166_19176178delinsCACTTCATCATAG	GRCh38
NC_000022.10:g.19163679_19163691delinsCACTTCATCATAG , CM000684.1:g.19163679_19163691delinsCACTTCATCATAG	GRCh37
NC_000022.9:g.17543679_17543691delinsCACTTCATCATAG	NCBI36
NG_033863.1:g.7686_7698delinsCTATGATGAAGTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000215882.10:c.888_900delinsCTATGATGAAGTG MANE Select	ENSP00000215882.5:p.Ile296=
ENST00000215882.9:c.888_900delinsCTATGATGAAGTG	ENSP00000215882.5:p.Ile296=
ENST00000451283.5:c.579_591delinsCTATGATGAAGTG	ENSP00000401480.1:p.Ile193=
ENST00000470922.5:n.1030_1042delinsCTATGATGAAGTG
NM_001256534.1:c.909_921delinsCTATGATGAAGTG	NP_001243463.1:p.Ile303=
NM_001287387.1:c.579_591delinsCTATGATGAAGTG	NP_001274316.1:p.Ile193=
NM_005984.4:c.888_900delinsCTATGATGAAGTG	NP_005975.1:p.Ile296=
NR_046298.2:n.939_951delinsCTATGATGAAGTG
NM_005984.5:c.888_900delinsCTATGATGAAGTG MANE Select	NP_005975.1:p.Ile296=
NM_001256534.2:c.909_921delinsCTATGATGAAGTG	NP_001243463.1:p.Ile303=
NM_001287387.2:c.579_591delinsCTATGATGAAGTG	NP_001274316.1:p.Ile193=
NR_046298.3:n.812_824delinsCTATGATGAAGTG