Canonical Allele Identifier: CA2655261435

Gene: SLC25A1

Linked Data

• gnomAD v4: 22-19176456-G-GCAGTCCCACGTGTTC

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19176458_19176472dup , CM000684.2:g.19176458_19176472dup	GRCh38
NC_000022.10:g.19163971_19163985dup , CM000684.1:g.19163971_19163985dup	GRCh37
NC_000022.9:g.17543971_17543985dup	NCBI36
NG_033863.1:g.7393_7407dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000215882.10:c.771_785dup MANE Select	ENSP00000215882.5:p.Asp261_Cys262insTrpAsnThrTrpAsp
ENST00000215882.9:c.771_785dup	ENSP00000215882.5:p.Asp261_Cys262insTrpAsnThrTrpAsp
ENST00000451283.5:c.462_476dup	ENSP00000401480.1:p.Asp158_Cys159insTrpAsnThrTrpAsp
ENST00000470922.5:n.913_927dup
NM_001256534.1:c.792_806dup	NP_001243463.1:p.Asp268_Cys269insTrpAsnThrTrpAsp
NM_001287387.1:c.462_476dup	NP_001274316.1:p.Asp158_Cys159insTrpAsnThrTrpAsp
NM_005984.4:c.771_785dup	NP_005975.1:p.Asp261_Cys262insTrpAsnThrTrpAsp
NR_046298.2:n.822_836dup
NM_005984.5:c.771_785dup MANE Select	NP_005975.1:p.Asp261_Cys262insTrpAsnThrTrpAsp
NM_001256534.2:c.792_806dup	NP_001243463.1:p.Asp268_Cys269insTrpAsnThrTrpAsp
NM_001287387.2:c.462_476dup	NP_001274316.1:p.Asp158_Cys159insTrpAsnThrTrpAsp
NR_046298.3:n.695_709dup