Canonical Allele Identifier: CA2655261525

Gene: SLC25A1

Linked Data

• gnomAD v4: 22-19176893-TG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19176895del , CM000684.2:g.19176895del	GRCh38
NC_000022.10:g.19164408del , CM000684.1:g.19164408del	GRCh37
NC_000022.9:g.17544408del	NCBI36
NG_033863.1:g.6970del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000215882.10:c.583del MANE Select	ENSP00000215882.5:p.Gln195ArgfsTer8
ENST00000215882.9:c.583del	ENSP00000215882.5:p.Gln195ArgfsTer8
ENST00000451283.5:c.274del	ENSP00000401480.1:p.Gln92ArgfsTer8
ENST00000461267.1:n.729del
ENST00000470922.5:n.725del
NM_001256534.1:c.604del	NP_001243463.1:p.Gln202ArgfsTer8
NM_001287387.1:c.274del	NP_001274316.1:p.Gln92ArgfsTer8
NM_005984.4:c.583del	NP_005975.1:p.Gln195ArgfsTer8
NR_046298.2:n.634del
NM_005984.5:c.583del MANE Select	NP_005975.1:p.Gln195ArgfsTer8
NM_001256534.2:c.604del	NP_001243463.1:p.Gln202ArgfsTer8
NM_001287387.2:c.274del	NP_001274316.1:p.Gln92ArgfsTer8
NR_046298.3:n.507del