Canonical Allele Identifier: CA2818381017

Gene: SLC25A1

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19177798del , CM000684.2:g.19177798del	GRCh38
NC_000022.10:g.19165311del , CM000684.1:g.19165311del	GRCh37
NC_000022.9:g.17545311del	NCBI36
NG_033805.1:g.118921del
NG_033863.1:g.6068del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000215882.10:c.372del MANE Select	ENSP00000215882.5:p.Leu125CysfsTer24
ENST00000215882.9:c.372del	ENSP00000215882.5:p.Leu125CysfsTer24
ENST00000451283.5:c.63del	ENSP00000401480.1:p.Leu22CysfsTer24
ENST00000461267.1:n.518del
ENST00000470922.5:n.514del
NM_001256534.1:c.393del	NP_001243463.1:p.Leu132CysfsTer24
NM_001287387.1:c.63del	NP_001274316.1:p.Leu22CysfsTer24
NM_005984.4:c.372del	NP_005975.1:p.Leu125CysfsTer24
NR_046298.2:n.492+146del
NM_005984.5:c.372del MANE Select	NP_005975.1:p.Leu125CysfsTer24
NM_001256534.2:c.393del	NP_001243463.1:p.Leu132CysfsTer24
NM_001287387.2:c.63del	NP_001274316.1:p.Leu22CysfsTer24
NR_046298.3:n.365+146del