Canonical Allele Identifier: CA16041750
Gene: MPI HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 371237
ClinVar RCV Id: RCV000409548
dbSNP Id: rs1057517115

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.74896221del , CM000677.2:g.74896221del GRCh38
NC_000015.9:g.75188562del , CM000677.1:g.75188562del GRCh37
NC_000015.8:g.72975615del NCBI36
NG_008921.1:g.11153del

Transcript Alleles

HGVS Amino-acid change
NM_001289155.1:c.740del VV NP_001276084.1:p.Gly247ValfsTer11
NM_001289156.1:c.590del VV NP_001276085.1:p.Gly197ValfsTer11
NM_001289157.1:c.557del VV NP_001276086.1:p.Gly186ValfsTer11
NM_002435.2:c.740del VV NP_002426.1:p.Gly247ValfsTer11
XM_011521592.1:c.728del XP_011519894.1:p.Gly243ValfsTer11
XM_011521593.1:c.680del XP_011519895.1:p.Gly227ValfsTer11
NM_001330372.1:c.680del VV NP_001317301.1:p.Gly227ValfsTer11
XM_017022208.1:c.680del XP_016877697.1:p.Gly227ValfsTer11
XM_017022209.2:c.590del XP_016877698.1:p.Gly197ValfsTer11
ENST00000323744.10:c.557del ENSP00000318192.6:p.Gly186ValfsTer11
ENST00000352410.8:c.740del ENSP00000318318.6:p.Gly247ValfsTer11
ENST00000535694.5:c.590del ENSP00000440447.1:p.Gly197ValfsTer11
ENST00000562606.5:c.680del ENSP00000457020.1:p.Gly227ValfsTer11
ENST00000562800.5:c.256-1318del ENSP00000457619.1:p.=
ENST00000563422.5:c.740del ENSP00000457885.1:p.Gly247ValfsTer11
ENST00000563786.5:c.680del ENSP00000455241.1:p.Gly227ValfsTer11
ENST00000564003.5:c.407del ENSP00000454312.1:p.Gly136ValfsTer11
ENST00000566377.5:c.740del ENSP00000455405.1:p.Gly247ValfsTer11
ENST00000566556.1:n.788del
ENST00000567177.1:n.518del ENSP00000457013.1:p.Gly173ValfsTer11
ENST00000569931.5:c.680del ENSP00000455161.1:p.Gly227ValfsTer11