Canonical Allele Identifier: CA645608327

Gene: SLC25A1

Linked Data

• COSMIC: COSM5547161

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19176594del , CM000684.2:g.19176594del	GRCh38
NC_000022.10:g.19164107del , CM000684.1:g.19164107del	GRCh37
NC_000022.9:g.17544107del	NCBI36
NG_033863.1:g.7271del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000215882.10:c.732del MANE Select	ENSP00000215882.5:p.Lys245ArgfsTer23
ENST00000215882.9:c.732del	ENSP00000215882.5:p.Lys245ArgfsTer23
ENST00000451283.5:c.423del	ENSP00000401480.1:p.Lys142ArgfsTer23
ENST00000470922.5:n.874del
NM_001256534.1:c.753del	NP_001243463.1:p.Lys252ArgfsTer23
NM_001287387.1:c.423del	NP_001274316.1:p.Lys142ArgfsTer23
NM_005984.4:c.732del	NP_005975.1:p.Lys245ArgfsTer23
NR_046298.2:n.783del
NM_005984.5:c.732del MANE Select	NP_005975.1:p.Lys245ArgfsTer23
NM_001256534.2:c.753del	NP_001243463.1:p.Lys252ArgfsTer23
NM_001287387.2:c.423del	NP_001274316.1:p.Lys142ArgfsTer23
NR_046298.3:n.656del