Canonical Allele Identifier: CA2697549216
Gene: MPI HGNC NCBI

Linked Data

ClinVar Variation Id: 2735509
ClinVar RCV Id: RCV003516326

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.74891440del , CM000677.2:g.74891440del GRCh38
NC_000015.9:g.75183781del , CM000677.1:g.75183781del GRCh37
NC_000015.8:g.72970834del NCBI36
NG_008921.1:g.6372del

Transcript Alleles

HGVS Amino-acid Change
ENST00000352410.9:c.206del MANE Select ENSP00000318318.6:p.Lys69ArgfsTer3
ENST00000323744.10:c.206del ENSP00000318192.6:p.Lys69ArgfsTer3
ENST00000352410.8:c.206del ENSP00000318318.6:p.Lys69ArgfsTer3
ENST00000535694.5:c.56del ENSP00000440447.1:p.Lys19ArgfsTer3
ENST00000561470.5:c.*102del ENSP00000454267.1:n.*102del
ENST00000562606.5:c.146del ENSP00000457020.1:p.Lys49ArgfsTer3
ENST00000562800.5:c.206del ENSP00000457619.1:p.Lys69ArgfsTer3
ENST00000563422.5:c.206del ENSP00000457885.1:p.Lys69ArgfsTer3
ENST00000563786.5:c.146del ENSP00000455241.1:p.Lys49ArgfsTer3
ENST00000564003.5:c.56del ENSP00000454312.1:p.Lys19ArgfsTer3
ENST00000564633.5:c.146del ENSP00000455383.1:p.Lys49ArgfsTer3
ENST00000565576.5:c.206del ENSP00000454619.1:p.Lys69ArgfsTer3
ENST00000566377.5:c.206del ENSP00000455405.1:p.Lys69ArgfsTer3
ENST00000567116.5:n.237del
ENST00000567132.5:c.206del ENSP00000455972.1:p.Lys69ArgfsTer3
ENST00000567177.1:c.167del ENSP00000457013.1:p.Lys56ArgfsTer3
ENST00000567570.5:c.146del ENSP00000455477.1:p.Lys49ArgfsTer3
ENST00000568828.5:c.170del ENSP00000455065.1:p.Lys57ArgfsTer3
ENST00000568840.1:n.315del
ENST00000568907.5:c.206del ENSP00000457494.1:p.Lys69ArgfsTer3
ENST00000569233.5:c.263del ENSP00000454622.1:p.Lys88ArgfsTer3
ENST00000569931.5:c.146del ENSP00000455161.1:p.Lys49ArgfsTer3
NM_001289155.1:c.206del NP_001276084.1:p.Lys69ArgfsTer3
NM_001289156.1:c.56del NP_001276085.1:p.Lys19ArgfsTer3
NM_001289157.1:c.206del NP_001276086.1:p.Lys69ArgfsTer3
NM_002435.2:c.206del NP_002426.1:p.Lys69ArgfsTer3
XM_011521592.1:c.194del XP_011519894.1:p.Lys65ArgfsTer3
XM_011521593.1:c.146del XP_011519895.1:p.Lys49ArgfsTer3
NM_001330372.1:c.146del NP_001317301.1:p.Lys49ArgfsTer3
XM_017022208.1:c.146del XP_016877697.1:p.Lys49ArgfsTer3
XM_017022209.2:c.56del XP_016877698.1:p.Lys19ArgfsTer3
NM_002435.3:c.206del MANE Select NP_002426.1:p.Lys69ArgfsTer3
NM_001289155.2:c.206del NP_001276084.1:p.Lys69ArgfsTer3
NM_001289156.2:c.56del NP_001276085.1:p.Lys19ArgfsTer3
NM_001289157.2:c.206del NP_001276086.1:p.Lys69ArgfsTer3
NM_001330372.2:c.146del NP_001317301.1:p.Lys49ArgfsTer3