Canonical Allele Identifier: CA2629530479
Gene: MPI HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.74896188_74896189del , CM000677.2:g.74896188_74896189del GRCh38
NC_000015.9:g.75188529_75188530del , CM000677.1:g.75188529_75188530del GRCh37
NC_000015.8:g.72975582_72975583del NCBI36
NG_008921.1:g.11120_11121del

Transcript Alleles

HGVS Amino-acid Change
ENST00000352410.9:c.707_708del MANE Select ENSP00000318318.6:p.Glu236AlafsTer12
ENST00000323744.10:c.524_525del ENSP00000318192.6:p.Glu175AlafsTer12
ENST00000352410.8:c.707_708del ENSP00000318318.6:p.Glu236AlafsTer12
ENST00000535694.5:c.557_558del ENSP00000440447.1:p.Glu186AlafsTer12
ENST00000562606.5:c.647_648del ENSP00000457020.1:p.Glu216AlafsTer12
ENST00000562800.5:c.256-1351_256-1350del ENSP00000457619.1:n.256-1351_256-1350del
ENST00000563422.5:c.707_708del ENSP00000457885.1:p.Glu236AlafsTer12
ENST00000563786.5:c.647_648del ENSP00000455241.1:p.Glu216AlafsTer12
ENST00000564003.5:c.374_375del ENSP00000454312.1:p.Glu125AlafsTer12
ENST00000566377.5:c.707_708del ENSP00000455405.1:p.Glu236AlafsTer12
ENST00000566556.1:n.755_756del
ENST00000567177.1:c.485_486del ENSP00000457013.1:p.Glu162AlafsTer12
ENST00000569931.5:c.647_648del ENSP00000455161.1:p.Glu216AlafsTer12
NM_001289155.1:c.707_708del NP_001276084.1:p.Glu236AlafsTer12
NM_001289156.1:c.557_558del NP_001276085.1:p.Glu186AlafsTer12
NM_001289157.1:c.524_525del NP_001276086.1:p.Glu175AlafsTer12
NM_002435.2:c.707_708del NP_002426.1:p.Glu236AlafsTer12
XM_011521592.1:c.695_696del XP_011519894.1:p.Glu232AlafsTer12
XM_011521593.1:c.647_648del XP_011519895.1:p.Glu216AlafsTer12
NM_001330372.1:c.647_648del NP_001317301.1:p.Glu216AlafsTer12
XM_017022208.1:c.647_648del XP_016877697.1:p.Glu216AlafsTer12
XM_017022209.2:c.557_558del XP_016877698.1:p.Glu186AlafsTer12
NM_002435.3:c.707_708del MANE Select NP_002426.1:p.Glu236AlafsTer12
NM_001289155.2:c.707_708del NP_001276084.1:p.Glu236AlafsTer12
NM_001289156.2:c.557_558del NP_001276085.1:p.Glu186AlafsTer12
NM_001289157.2:c.524_525del NP_001276086.1:p.Glu175AlafsTer12
NM_001330372.2:c.647_648del NP_001317301.1:p.Glu216AlafsTer12