Canonical Allele Identifier: CA261243
Gene: SMPX HGNC NCBI
ClinVar RCV:
ClinVar Variation:
MyVariant.info:

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.21743788del , CM000685.2:g.21743788del GRCh38
NC_000023.10:g.21761906del , CM000685.1:g.21761906del GRCh37
NC_000023.9:g.21671827del NCBI36
NG_031916.1:g.19378del

Transcript Alleles

HGVS Amino-acid Change
ENST00000379494.4:c.99del MANE Select ENSP00000368808.3:p.Arg34GlufsTer?
ENST00000646008.1:c.99del ENSP00000493671.1:p.Arg34GlufsTer?
ENST00000379494.3:c.99del ENSP00000368808.3:p.Arg34GlufsTer?
ENST00000494525.1:n.192del
NM_014332.2:c.99del NP_055147.1:p.Arg34GlufsTer?
NR_045617.1:n.330del
NM_014332.3:c.99del MANE Select NP_055147.1:p.Arg34GlufsTer?
NR_045617.2:n.286del