Canonical Allele Identifier: CA10097263

Gene: SLC25A1

Linked Data

• dbSNP Id: rs782292280
• ExAC: 22:19163796 GCA / G
• gnomAD v2: 22-19163796-GCA-G
• gnomAD v3: 22-19176283-GCA-G
• gnomAD v4: 22-19176283-GCA-G
• MyVariant Identifiers: chr22:g.19163797_19163798del (hg19) ; chr22:g.19176285_19176286del (hg38) ; chr22:g.19176284_19176285del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19176286_19176287del , CM000684.2:g.19176286_19176287del	GRCh38
NC_000022.10:g.19163799_19163800del , CM000684.1:g.19163799_19163800del	GRCh37
NC_000022.9:g.17543799_17543800del	NCBI36
NG_033863.1:g.7579_7580del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000215882.10:c.822-41_822-40del MANE Select	ENSP00000215882.5:n.822-41_822-40del
ENST00000215882.9:c.822-41_822-40del	ENSP00000215882.5:n.822-41_822-40del
ENST00000451283.5:c.513-41_513-40del	ENSP00000401480.1:n.513-41_513-40del
ENST00000470922.5:n.964-41_964-40del
NM_001256534.1:c.843-41_843-40del	NP_001243463.1:n.843-41_843-40del
NM_001287387.1:c.513-41_513-40del	NP_001274316.1:n.513-41_513-40del
NM_005984.4:c.822-41_822-40del	NP_005975.1:n.822-41_822-40del
NR_046298.2:n.873-41_873-40del
NM_005984.5:c.822-41_822-40del MANE Select	NP_005975.1:n.822-41_822-40del
NM_001256534.2:c.843-41_843-40del	NP_001243463.1:n.843-41_843-40del
NM_001287387.2:c.513-41_513-40del	NP_001274316.1:n.513-41_513-40del
NR_046298.3:n.746-41_746-40del