Canonical Allele Identifier: CA2395758230

Gene: SLC25A1

Linked Data

• dbSNP Id: rs2083963819

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19176582_19176584del , CM000684.2:g.19176582_19176584del	GRCh38
NC_000022.10:g.19164095_19164097del , CM000684.1:g.19164095_19164097del	GRCh37
NC_000022.9:g.17544095_17544097del	NCBI36
NG_033863.1:g.7281_7283del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000215882.10:c.742_744del MANE Select	ENSP00000215882.5:p.Met248del
ENST00000215882.9:c.742_744del	ENSP00000215882.5:p.Met248del
ENST00000451283.5:c.433_435del	ENSP00000401480.1:p.Met145del
ENST00000470922.5:n.884_886del
NM_001256534.1:c.763_765del	NP_001243463.1:p.Met255del
NM_001287387.1:c.433_435del	NP_001274316.1:p.Met145del
NM_005984.4:c.742_744del	NP_005975.1:p.Met248del
NR_046298.2:n.793_795del
NM_005984.5:c.742_744del MANE Select	NP_005975.1:p.Met248del
NM_001256534.2:c.763_765del	NP_001243463.1:p.Met255del
NM_001287387.2:c.433_435del	NP_001274316.1:p.Met145del
NR_046298.3:n.666_668del