Canonical Allele Identifier: CA321344950

Gene: SLC25A1

Linked Data

• dbSNP Id: rs782571701
• MyVariant Identifiers: chr22:g.19164552del (hg19) ; chr22:g.19177039del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19177041del , CM000684.2:g.19177041del	GRCh38
NC_000022.10:g.19164554del , CM000684.1:g.19164554del	GRCh37
NC_000022.9:g.17544554del	NCBI36
NG_033863.1:g.6825del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000215882.10:c.526+81del MANE Select	ENSP00000215882.5:n.526+81del
ENST00000215882.9:c.526+81del	ENSP00000215882.5:n.526+81del
ENST00000451283.5:c.217+81del	ENSP00000401480.1:n.217+81del
ENST00000461267.1:n.672+81del
ENST00000470922.5:n.668+81del
NM_001256534.1:c.547+81del	NP_001243463.1:n.547+81del
NM_001287387.1:c.217+81del	NP_001274316.1:n.217+81del
NM_005984.4:c.526+81del	NP_005975.1:n.526+81del
NR_046298.2:n.577+81del
NM_005984.5:c.526+81del MANE Select	NP_005975.1:n.526+81del
NM_001256534.2:c.547+81del	NP_001243463.1:n.547+81del
NM_001287387.2:c.217+81del	NP_001274316.1:n.217+81del
NR_046298.3:n.450+81del