Canonical Allele Identifier: CA638503324

Gene: SLC25A1

Linked Data

• dbSNP Id: rs1555922444
• gnomAD v2: 22-19164218-AG-A
• gnomAD v4: 22-19176705-AG-A
• MyVariant Identifiers: chr22:g.19164219del (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19176709del , CM000684.2:g.19176709del	GRCh38
NC_000022.10:g.19164222del , CM000684.1:g.19164222del	GRCh37
NC_000022.9:g.17544222del	NCBI36
NG_033863.1:g.7158del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000215882.10:c.632-13del MANE Select	ENSP00000215882.5:n.632-13del
ENST00000215882.9:c.632-13del	ENSP00000215882.5:n.632-13del
ENST00000451283.5:c.323-13del	ENSP00000401480.1:n.323-13del
ENST00000461267.1:n.778-13del
ENST00000470922.5:n.774-13del
NM_001256534.1:c.653-13del	NP_001243463.1:n.653-13del
NM_001287387.1:c.323-13del	NP_001274316.1:n.323-13del
NM_005984.4:c.632-13del	NP_005975.1:n.632-13del
NR_046298.2:n.683-13del
NM_005984.5:c.632-13del MANE Select	NP_005975.1:n.632-13del
NM_001256534.2:c.653-13del	NP_001243463.1:n.653-13del
NM_001287387.2:c.323-13del	NP_001274316.1:n.323-13del
NR_046298.3:n.556-13del