Canonical Allele Identifier: CA10602682

Gene: SLC25A4

Linked Data

• ClinVar Variation Id: 268149
• ClinVar RCV Id: RCV000258875
• dbSNP Id: rs886041080
• MyVariant Identifiers: chr4:g.186065922_186065943del (hg19) ; chr4:g.185144768_185144789del (hg38)
• PubMed: PMID:7609449 ; PMID:8479824 ; PMID:25732997

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.185144768_185144789del , CM000666.2:g.185144768_185144789del	GRCh38
NC_000004.11:g.186065922_186065943del , CM000666.1:g.186065922_186065943del	GRCh37
NC_000004.10:g.186302916_186302937del	NCBI36
NG_013001.1:g.6506_6527del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281456.11:c.116_137del MANE Select	ENSP00000281456.5:p.Gln39LeufsTer14
ENST00000281456.10:c.116_137del	ENSP00000281456.5:p.Gln39LeufsTer14
ENST00000491736.1:c.116_137del	ENSP00000476711.1:p.Gln39LeufsTer14
NM_001151.3:c.116_137del	NP_001142.2:p.Gln39LeufsTer14
NM_001151.4:c.116_137del MANE Select	NP_001142.2:p.Gln39LeufsTer14