Canonical Allele Identifier: CA2580099085

Gene: SLC25A1

Linked Data

• ClinVar Variation Id: 2187084
• ClinVar RCV Id: RCV002611331

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19176948del , CM000684.2:g.19176948del	GRCh38
NC_000022.10:g.19164461del , CM000684.1:g.19164461del	GRCh37
NC_000022.9:g.17544461del	NCBI36
NG_033863.1:g.6916del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000215882.10:c.529del MANE Select	ENSP00000215882.5:p.Leu177Ter
ENST00000215882.9:c.529del	ENSP00000215882.5:p.Leu177Ter
ENST00000451283.5:c.220del	ENSP00000401480.1:p.Leu74Ter
ENST00000461267.1:n.675del
ENST00000470922.5:n.671del
NM_001256534.1:c.550del	NP_001243463.1:p.Leu184Ter
NM_001287387.1:c.220del	NP_001274316.1:p.Leu74Ter
NM_005984.4:c.529del	NP_005975.1:p.Leu177Ter
NR_046298.2:n.580del
NM_005984.5:c.529del MANE Select	NP_005975.1:p.Leu177Ter
NM_001256534.2:c.550del	NP_001243463.1:p.Leu184Ter
NM_001287387.2:c.220del	NP_001274316.1:p.Leu74Ter
NR_046298.3:n.453del