Canonical Allele Identifier: CA751416991

Gene: SLC25A1

Linked Data

• dbSNP Id: rs1265761810
• gnomAD v3: 22-19177006-TTGG-T
• gnomAD v4: 22-19177006-TTGG-T
• MyVariant Identifiers: chr22:g.19177007_19177009del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19177009_19177011del , CM000684.2:g.19177009_19177011del	GRCh38
NC_000022.10:g.19164522_19164524del , CM000684.1:g.19164522_19164524del	GRCh37
NC_000022.9:g.17544522_17544524del	NCBI36
NG_033863.1:g.6855_6857del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000215882.10:c.527-59_527-57del MANE Select	ENSP00000215882.5:n.527-59_527-57del
ENST00000215882.9:c.527-59_527-57del	ENSP00000215882.5:n.527-59_527-57del
ENST00000451283.5:c.218-59_218-57del	ENSP00000401480.1:n.218-59_218-57del
ENST00000461267.1:n.673-59_673-57del
ENST00000470922.5:n.669-59_669-57del
NM_001256534.1:c.548-59_548-57del	NP_001243463.1:n.548-59_548-57del
NM_001287387.1:c.218-59_218-57del	NP_001274316.1:n.218-59_218-57del
NM_005984.4:c.527-59_527-57del	NP_005975.1:n.527-59_527-57del
NR_046298.2:n.578-59_578-57del
NM_005984.5:c.527-59_527-57del MANE Select	NP_005975.1:n.527-59_527-57del
NM_001256534.2:c.548-59_548-57del	NP_001243463.1:n.548-59_548-57del
NM_001287387.2:c.218-59_218-57del	NP_001274316.1:n.218-59_218-57del
NR_046298.3:n.451-59_451-57del