Canonical Allele Identifier: CA2655261341

Gene: SLC25A1

Linked Data

• gnomAD v4: 22-19176202-CAGGCAGA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19176203_19176209del , CM000684.2:g.19176203_19176209del	GRCh38
NC_000022.10:g.19163716_19163722del , CM000684.1:g.19163716_19163722del	GRCh37
NC_000022.9:g.17543716_17543722del	NCBI36
NG_033863.1:g.7655_7661del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000215882.10:c.857_863del MANE Select	ENSP00000215882.5:p.Val286GlyfsTer5
ENST00000215882.9:c.857_863del	ENSP00000215882.5:p.Val286GlyfsTer5
ENST00000451283.5:c.548_554del	ENSP00000401480.1:p.Val183GlyfsTer5
ENST00000470922.5:n.999_1005del
NM_001256534.1:c.878_884del	NP_001243463.1:p.Val293GlyfsTer5
NM_001287387.1:c.548_554del	NP_001274316.1:p.Val183GlyfsTer5
NM_005984.4:c.857_863del	NP_005975.1:p.Val286GlyfsTer5
NR_046298.2:n.908_914del
NM_005984.5:c.857_863del MANE Select	NP_005975.1:p.Val286GlyfsTer5
NM_001256534.2:c.878_884del	NP_001243463.1:p.Val293GlyfsTer5
NM_001287387.2:c.548_554del	NP_001274316.1:p.Val183GlyfsTer5
NR_046298.3:n.781_787del