Canonical Allele Identifier: CA1519346984
Gene: SLC25A4 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.185144767_185144789delinsCAGCATGCCAGCAAACAGATCAG , CM000666.2:g.185144767_185144789delinsCAGCATGCCAGCAAACAGATCAG GRCh38
NC_000004.11:g.186065921_186065943delinsCAGCATGCCAGCAAACAGATCAG , CM000666.1:g.186065921_186065943delinsCAGCATGCCAGCAAACAGATCAG GRCh37
NC_000004.10:g.186302915_186302937delinsCAGCATGCCAGCAAACAGATCAG NCBI36
NG_013001.1:g.6505_6527delinsCAGCATGCCAGCAAACAGATCAG

Transcript Alleles

HGVS Amino-acid change
ENST00000281456.11:c.115_137delinsCAGCATGCCAGCAAACAGATCAG MANE Select ENSP00000281456.5:p.Gln39=
ENST00000281456.10:c.115_137delinsCAGCATGCCAGCAAACAGATCAG ENSP00000281456.5:p.Gln39=
ENST00000491736.1:c.115_137delinsCAGCATGCCAGCAAACAGATCAG ENSP00000476711.1:p.Gln39=
NM_001151.3:c.115_137delinsCAGCATGCCAGCAAACAGATCAG NP_001142.2:p.Gln39=
NM_001151.4:c.115_137delinsCAGCATGCCAGCAAACAGATCAG MANE Select NP_001142.2:p.Gln39=
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