Canonical Allele Identifier: CA2580089994
Gene: MPI HGNC NCBI

Linked Data

ClinVar Variation Id: 2086713
ClinVar RCV Id: RCV002999843

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.74896187dup , CM000677.2:g.74896187dup GRCh38
NC_000015.9:g.75188528dup , CM000677.1:g.75188528dup GRCh37
NC_000015.8:g.72975581dup NCBI36
NG_008921.1:g.11119dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000352410.9:c.706dup MANE Select ENSP00000318318.6:p.Glu236GlyfsTer13
ENST00000323744.10:c.523dup ENSP00000318192.6:p.Glu175GlyfsTer13
ENST00000352410.8:c.706dup ENSP00000318318.6:p.Glu236GlyfsTer13
ENST00000535694.5:c.556dup ENSP00000440447.1:p.Glu186GlyfsTer13
ENST00000561470.5:c.*602dup ENSP00000454267.1:n.*602dup
ENST00000562606.5:c.646dup ENSP00000457020.1:p.Glu216GlyfsTer13
ENST00000562800.5:c.256-1352dup ENSP00000457619.1:n.256-1352dup
ENST00000563422.5:c.706dup ENSP00000457885.1:p.Glu236GlyfsTer13
ENST00000563786.5:c.646dup ENSP00000455241.1:p.Glu216GlyfsTer13
ENST00000564003.5:c.373dup ENSP00000454312.1:p.Glu125GlyfsTer13
ENST00000566377.5:c.706dup ENSP00000455405.1:p.Glu236GlyfsTer13
ENST00000566556.1:n.754dup
ENST00000567177.1:c.484dup ENSP00000457013.1:p.Glu162GlyfsTer13
ENST00000569931.5:c.646dup ENSP00000455161.1:p.Glu216GlyfsTer13
NM_001289155.1:c.706dup NP_001276084.1:p.Glu236GlyfsTer13
NM_001289156.1:c.556dup NP_001276085.1:p.Glu186GlyfsTer13
NM_001289157.1:c.523dup NP_001276086.1:p.Glu175GlyfsTer13
NM_002435.2:c.706dup NP_002426.1:p.Glu236GlyfsTer13
XM_011521592.1:c.694dup XP_011519894.1:p.Glu232GlyfsTer13
XM_011521593.1:c.646dup XP_011519895.1:p.Glu216GlyfsTer13
NM_001330372.1:c.646dup NP_001317301.1:p.Glu216GlyfsTer13
XM_017022208.1:c.646dup XP_016877697.1:p.Glu216GlyfsTer13
XM_017022209.2:c.556dup XP_016877698.1:p.Glu186GlyfsTer13
NM_002435.3:c.706dup MANE Select NP_002426.1:p.Glu236GlyfsTer13
NM_001289155.2:c.706dup NP_001276084.1:p.Glu236GlyfsTer13
NM_001289156.2:c.556dup NP_001276085.1:p.Glu186GlyfsTer13
NM_001289157.2:c.523dup NP_001276086.1:p.Glu175GlyfsTer13
NM_001330372.2:c.646dup NP_001317301.1:p.Glu216GlyfsTer13