Canonical Allele Identifier: CA2655261434

Gene: SLC25A1

Linked Data

• gnomAD v4: 22-19176455-C-CGCAGTCCCACGTGTTCCGGTATTTGT

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19176458_19176483dup , CM000684.2:g.19176458_19176483dup	GRCh38
NC_000022.10:g.19163971_19163996dup , CM000684.1:g.19163971_19163996dup	GRCh37
NC_000022.9:g.17543971_17543996dup	NCBI36
NG_033863.1:g.7383_7408dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000215882.10:c.761_786dup MANE Select	ENSP00000215882.5:p.Gly263ThrfsTer14
ENST00000215882.9:c.761_786dup	ENSP00000215882.5:p.Gly263ThrfsTer14
ENST00000451283.5:c.452_477dup	ENSP00000401480.1:p.Gly160ThrfsTer14
ENST00000470922.5:n.903_928dup
NM_001256534.1:c.782_807dup	NP_001243463.1:p.Gly270ThrfsTer14
NM_001287387.1:c.452_477dup	NP_001274316.1:p.Gly160ThrfsTer14
NM_005984.4:c.761_786dup	NP_005975.1:p.Gly263ThrfsTer14
NR_046298.2:n.812_837dup
NM_005984.5:c.761_786dup MANE Select	NP_005975.1:p.Gly263ThrfsTer14
NM_001256534.2:c.782_807dup	NP_001243463.1:p.Gly270ThrfsTer14
NM_001287387.2:c.452_477dup	NP_001274316.1:p.Gly160ThrfsTer14
NR_046298.3:n.685_710dup