Canonical Allele Identifier: CA2580099088

Gene: SLC25A1

Linked Data

• ClinVar Variation Id: 2368692
• ClinVar RCV Id: RCV002997549

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19177787_19177788del , CM000684.2:g.19177787_19177788del	GRCh38
NC_000022.10:g.19165300_19165301del , CM000684.1:g.19165300_19165301del	GRCh37
NC_000022.9:g.17545300_17545301del	NCBI36
NG_033805.1:g.118930_118931del
NG_033863.1:g.6077_6078del

Transcript Alleles

HGVS	Amino-acid change
ENST00000215882.10:c.381_382del MANE Select	ENSP00000215882.5:p.Cys127TrpfsTer?
ENST00000215882.9:c.381_382del	ENSP00000215882.5:p.Cys127TrpfsTer?
ENST00000451283.5:c.72_73del	ENSP00000401480.1:p.Cys24TrpfsTer?
ENST00000461267.1:n.527_528del
ENST00000470922.5:n.523_524del
NM_001256534.1:c.402_403del	NP_001243463.1:p.Cys134TrpfsTer?
NM_001287387.1:c.72_73del	NP_001274316.1:p.Cys24TrpfsTer?
NM_005984.4:c.381_382del	NP_005975.1:p.Cys127TrpfsTer?
NR_046298.2:n.492+155_492+156del
NM_005984.5:c.381_382del MANE Select	NP_005975.1:p.Cys127TrpfsTer?
NM_001256534.2:c.402_403del	NP_001243463.1:p.Cys134TrpfsTer?
NM_001287387.2:c.72_73del	NP_001274316.1:p.Cys24TrpfsTer?
NR_046298.3:n.365+155_365+156del