Canonical Allele Identifier: CA2697549214
Gene: MPI HGNC NCBI

Linked Data

ClinVar Variation Id: 2772652
ClinVar RCV Id: RCV003516093

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.74890575del , CM000677.2:g.74890575del GRCh38
NC_000015.9:g.75182916del , CM000677.1:g.75182916del GRCh37
NC_000015.8:g.72969969del NCBI36
NG_008921.1:g.5507del

Transcript Alleles

HGVS Amino-acid Change
ENST00000352410.9:c.65del MANE Select ENSP00000318318.6:p.Gly22ValfsTer?
ENST00000323744.10:c.65del ENSP00000318192.6:p.Gly22ValfsTer?
ENST00000352410.8:c.65del ENSP00000318318.6:p.Gly22ValfsTer?
ENST00000535694.5:c.-7+486del ENSP00000440447.1:n.-7+486del
ENST00000561470.5:c.177del ENSP00000454267.1:p.Phe60SerfsTer?
ENST00000562606.5:c.5del ENSP00000457020.1:p.Gly2ValfsTer?
ENST00000562800.5:c.65del ENSP00000457619.1:p.Gly22ValfsTer?
ENST00000563422.5:c.65del ENSP00000457885.1:p.Gly22ValfsTer?
ENST00000563786.5:c.5del ENSP00000455241.1:p.Gly2ValfsTer?
ENST00000564003.5:c.-7+486del ENSP00000454312.1:n.-7+486del
ENST00000564633.5:c.5del ENSP00000455383.1:p.Gly2ValfsTer?
ENST00000565576.5:c.65del ENSP00000454619.1:p.Gly22ValfsTer?
ENST00000566377.5:c.65del ENSP00000455405.1:p.Gly22ValfsTer?
ENST00000567116.5:n.96del
ENST00000567132.5:c.65del ENSP00000455972.1:p.Gly22ValfsTer?
ENST00000567177.1:c.26del ENSP00000457013.1:p.Gly9ValfsTer?
ENST00000567570.5:c.5del ENSP00000455477.1:p.Gly2ValfsTer?
ENST00000568303.1:n.182del
ENST00000568828.5:c.65del ENSP00000455065.1:p.Gly22ValfsTer?
ENST00000568840.1:n.174del
ENST00000568907.5:c.65del ENSP00000457494.1:p.Gly22ValfsTer?
ENST00000569233.5:c.65del ENSP00000454622.1:p.Gly22ValfsTer?
ENST00000569931.5:c.5del ENSP00000455161.1:p.Gly2ValfsTer?
NM_001289155.1:c.65del NP_001276084.1:p.Gly22ValfsTer?
NM_001289156.1:c.-7+486del NP_001276085.1:n.-7+486del
NM_001289157.1:c.65del NP_001276086.1:p.Gly22ValfsTer?
NM_002435.2:c.65del NP_002426.1:p.Gly22ValfsTer?
XM_011521592.1:c.53del XP_011519894.1:p.Gly18ValfsTer?
XM_011521593.1:c.5del XP_011519895.1:p.Gly2ValfsTer?
NM_001330372.1:c.5del NP_001317301.1:p.Gly2ValfsTer?
XM_017022208.1:c.5del XP_016877697.1:p.Gly2ValfsTer?
XM_017022209.2:c.-7+486del XP_016877698.1:n.-7+486del
NM_002435.3:c.65del MANE Select NP_002426.1:p.Gly22ValfsTer?
NM_001289155.2:c.65del NP_001276084.1:p.Gly22ValfsTer?
NM_001289156.2:c.-7+486del NP_001276085.1:n.-7+486del
NM_001289157.2:c.65del NP_001276086.1:p.Gly22ValfsTer?
NM_001330372.2:c.5del NP_001317301.1:p.Gly2ValfsTer?