Canonical Allele Identifier: CA2818380971

Gene: SLC25A1

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19176483del , CM000684.2:g.19176483del	GRCh38
NC_000022.10:g.19163996del , CM000684.1:g.19163996del	GRCh37
NC_000022.9:g.17543996del	NCBI36
NG_033863.1:g.7381del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000215882.10:c.759del MANE Select	ENSP00000215882.5:p.His254ThrfsTer14
ENST00000215882.9:c.759del	ENSP00000215882.5:p.His254ThrfsTer14
ENST00000451283.5:c.450del	ENSP00000401480.1:p.His151ThrfsTer14
ENST00000470922.5:n.901del
NM_001256534.1:c.780del	NP_001243463.1:p.His261ThrfsTer14
NM_001287387.1:c.450del	NP_001274316.1:p.His151ThrfsTer14
NM_005984.4:c.759del	NP_005975.1:p.His254ThrfsTer14
NR_046298.2:n.810del
NM_005984.5:c.759del MANE Select	NP_005975.1:p.His254ThrfsTer14
NM_001256534.2:c.780del	NP_001243463.1:p.His261ThrfsTer14
NM_001287387.2:c.450del	NP_001274316.1:p.His151ThrfsTer14
NR_046298.3:n.683del