Canonical Allele Identifier: CA751416985

Gene: SLC25A1

Linked Data

• dbSNP Id: rs1194756491
• MyVariant Identifiers: chr22:g.19176997_19177030del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19176998_19177031del , CM000684.2:g.19176998_19177031del	GRCh38
NC_000022.10:g.19164511_19164544del , CM000684.1:g.19164511_19164544del	GRCh37
NC_000022.9:g.17544511_17544544del	NCBI36
NG_033863.1:g.6834_6867del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000215882.10:c.527-80_527-47del MANE Select	ENSP00000215882.5:n.527-80_527-47del
ENST00000215882.9:c.527-80_527-47del	ENSP00000215882.5:n.527-80_527-47del
ENST00000451283.5:c.218-80_218-47del	ENSP00000401480.1:n.218-80_218-47del
ENST00000461267.1:n.673-80_673-47del
ENST00000470922.5:n.669-80_669-47del
NM_001256534.1:c.548-80_548-47del	NP_001243463.1:n.548-80_548-47del
NM_001287387.1:c.218-80_218-47del	NP_001274316.1:n.218-80_218-47del
NM_005984.4:c.527-80_527-47del	NP_005975.1:n.527-80_527-47del
NR_046298.2:n.578-80_578-47del
NM_005984.5:c.527-80_527-47del MANE Select	NP_005975.1:n.527-80_527-47del
NM_001256534.2:c.548-80_548-47del	NP_001243463.1:n.548-80_548-47del
NM_001287387.2:c.218-80_218-47del	NP_001274316.1:n.218-80_218-47del
NR_046298.3:n.451-80_451-47del