Canonical Allele Identifier: CA259702
Gene: SMPX HGNC NCBI

Linked Data

ClinVar Variation Id: 29948
ClinVar RCV Id: RCV000022840
dbSNP Id: rs398122848
MyVariant Identifiers: chrX:g.21761870del (hg19) chrX:g.21743752del (hg38)
PubMed: PMID:21549342
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.21743753del , CM000685.2:g.21743753del GRCh38
NC_000023.10:g.21761871del , CM000685.1:g.21761871del GRCh37
NC_000023.9:g.21671792del NCBI36
NG_031916.1:g.19409del

Transcript Alleles

HGVS Amino-acid change
ENST00000379494.4:c.130del MANE Select ENSP00000368808.3:p.Glu44ArgfsTer?
ENST00000646008.1:c.130del ENSP00000493671.1:p.Glu44ArgfsTer?
ENST00000379494.3:c.130del ENSP00000368808.3:p.Glu44ArgfsTer?
ENST00000494525.1:n.223del
NM_014332.2:c.130del NP_055147.1:p.Glu44ArgfsTer?
NR_045617.1:n.361del
NM_014332.3:c.130del MANE Select NP_055147.1:p.Glu44ArgfsTer?
NR_045617.2:n.317del
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