Canonical Allele Identifier: CA2564549606

Gene: SLC25A1

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19177787del , CM000684.2:g.19177787del	GRCh38
NC_000022.10:g.19165300del , CM000684.1:g.19165300del	GRCh37
NC_000022.9:g.17545300del	NCBI36
NG_033805.1:g.118930del
NG_033863.1:g.6077del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000215882.10:c.381del MANE Select	ENSP00000215882.5:p.Cys127TrpfsTer22
ENST00000215882.9:c.381del	ENSP00000215882.5:p.Cys127TrpfsTer22
ENST00000451283.5:c.72del	ENSP00000401480.1:p.Cys24TrpfsTer22
ENST00000461267.1:n.527del
ENST00000470922.5:n.523del
NM_001256534.1:c.402del	NP_001243463.1:p.Cys134TrpfsTer22
NM_001287387.1:c.72del	NP_001274316.1:p.Cys24TrpfsTer22
NM_005984.4:c.381del	NP_005975.1:p.Cys127TrpfsTer22
NR_046298.2:n.492+155del
NM_005984.5:c.381del MANE Select	NP_005975.1:p.Cys127TrpfsTer22
NM_001256534.2:c.402del	NP_001243463.1:p.Cys134TrpfsTer22
NM_001287387.2:c.72del	NP_001274316.1:p.Cys24TrpfsTer22
NR_046298.3:n.365+155del