Canonical Allele Identifier: CA16041745
Gene: MPI HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 370410
ClinVar RCV Id: RCV000411654
dbSNP Id: rs1057516466

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.74890630del , CM000677.2:g.74890630del GRCh38
NC_000015.8:g.72970024del NCBI36
NC_000015.9:g.75182971del , CM000677.1:g.75182971del GRCh37
NG_008921.1:g.5562del

Transcript Alleles

HGVS Amino-acid change
ENST00000323744.10:c.120del ENSP00000318192.6:p.Ile40MetfsTer?
ENST00000352410.8:c.120del ENSP00000318318.6:p.Ile40MetfsTer?
ENST00000535694.5:c.-7+541del ENSP00000440447.1:p.=
ENST00000561470.5:c.*16del ENSP00000454267.1:p.=
ENST00000562606.5:c.60del ENSP00000457020.1:p.Ile20MetfsTer?
ENST00000562800.5:c.120del ENSP00000457619.1:p.Ile40MetfsTer?
ENST00000563422.5:c.120del ENSP00000457885.1:p.Ile40MetfsTer?
ENST00000563786.5:c.60del ENSP00000455241.1:p.Ile20MetfsTer?
ENST00000564003.5:c.-7+541del ENSP00000454312.1:p.=
ENST00000564633.5:c.60del ENSP00000455383.1:p.Ile20MetfsTer?
ENST00000565576.5:c.120del ENSP00000454619.1:p.Ile40MetfsTer?
ENST00000566377.5:c.120del ENSP00000455405.1:p.Ile40MetfsTer?
ENST00000567116.5:n.151del
ENST00000567132.5:c.120del ENSP00000455972.1:p.Ile40MetfsTer?
ENST00000567177.1:n.81del ENSP00000457013.1:p.Ile27MetfsTer?
ENST00000567570.5:c.60del ENSP00000455477.1:p.Ile20MetfsTer?
ENST00000568303.1:n.237del
ENST00000568828.5:c.120del ENSP00000455065.1:p.Ile40MetfsTer20
ENST00000568840.1:n.229del
ENST00000568907.5:c.120del ENSP00000457494.1:p.Ile40MetfsTer?
ENST00000569233.5:c.120del ENSP00000454622.1:p.Ile40MetfsTer16
ENST00000569931.5:c.60del ENSP00000455161.1:p.Ile20MetfsTer?
NM_001289155.1:c.120del NP_001276084.1:p.Ile40MetfsTer?
NM_001289156.1:c.-7+541del NP_001276085.1:p.=
NM_001289157.1:c.120del NP_001276086.1:p.Ile40MetfsTer?
NM_002435.2:c.120del NP_002426.1:p.Ile40MetfsTer?
XM_011521592.1:c.108del XP_011519894.1:p.Ile36MetfsTer?
XM_011521593.1:c.60del XP_011519895.1:p.Ile20MetfsTer?