Canonical Allele Identifier: CA321344460

Gene: SLC25A1

Linked Data

• dbSNP Id: rs782317528
• gnomAD v4: 22-19176761-T-TG
• MyVariant Identifiers: chr22:g.19164274_19164275insG (hg19) ; chr22:g.19176761_19176762insG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19176764dup , CM000684.2:g.19176764dup	GRCh38
NC_000022.10:g.19164277dup , CM000684.1:g.19164277dup	GRCh37
NC_000022.9:g.17544277dup	NCBI36
NG_033863.1:g.7102dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000215882.10:c.632-69dup MANE Select	ENSP00000215882.5:n.632-69dup
ENST00000215882.9:c.632-69dup	ENSP00000215882.5:n.632-69dup
ENST00000451283.5:c.323-69dup	ENSP00000401480.1:n.323-69dup
ENST00000461267.1:n.778-69dup
ENST00000470922.5:n.774-69dup
NM_001256534.1:c.653-69dup	NP_001243463.1:n.653-69dup
NM_001287387.1:c.323-69dup	NP_001274316.1:n.323-69dup
NM_005984.4:c.632-69dup	NP_005975.1:n.632-69dup
NR_046298.2:n.683-69dup
NM_005984.5:c.632-69dup MANE Select	NP_005975.1:n.632-69dup
NM_001256534.2:c.653-69dup	NP_001243463.1:n.653-69dup
NM_001287387.2:c.323-69dup	NP_001274316.1:n.323-69dup
NR_046298.3:n.556-69dup