Canonical Allele Identifier: CA658824073
Gene: MPI HGNC NCBI

Linked Data

ClinVar Variation Id: 551638
ClinVar RCV Id: RCV000666756
dbSNP Id: rs1555479227

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.74896283_74896284del , CM000677.2:g.74896283_74896284del GRCh38
NC_000015.9:g.75188624_75188625del , CM000677.1:g.75188624_75188625del GRCh37
NC_000015.8:g.72975677_72975678del NCBI36
NG_008921.1:g.11215_11216del

Transcript Alleles

HGVS Amino-acid Change
ENST00000352410.9:c.802_803del MANE Select ENSP00000318318.6:p.Met268ValfsTer?
ENST00000323744.10:c.619_620del ENSP00000318192.6:p.Met207ValfsTer?
ENST00000352410.8:c.802_803del ENSP00000318318.6:p.Met268ValfsTer?
ENST00000535694.5:c.652_653del ENSP00000440447.1:p.Met218ValfsTer?
ENST00000562606.5:c.742_743del ENSP00000457020.1:p.Met248ValfsTer15
ENST00000562800.5:c.256-1256_256-1255del ENSP00000457619.1:n.256-1256_256-1255del
ENST00000563422.5:c.802_803del ENSP00000457885.1:p.Met268ValfsTer15
ENST00000563786.5:c.742_743del ENSP00000455241.1:p.Met248ValfsTer?
ENST00000564003.5:c.469_470del ENSP00000454312.1:p.Met157ValfsTer15
ENST00000566377.5:c.802_803del ENSP00000455405.1:p.Met268ValfsTer?
ENST00000566556.1:n.850_851del
ENST00000567177.1:c.580_581del ENSP00000457013.1:p.Met194ValfsTer?
ENST00000569931.5:c.742_743del ENSP00000455161.1:p.Met248ValfsTer?
NM_001289155.1:c.802_803del NP_001276084.1:p.Met268ValfsTer?
NM_001289156.1:c.652_653del NP_001276085.1:p.Met218ValfsTer?
NM_001289157.1:c.619_620del NP_001276086.1:p.Met207ValfsTer?
NM_002435.2:c.802_803del NP_002426.1:p.Met268ValfsTer?
XM_011521592.1:c.790_791del XP_011519894.1:p.Met264ValfsTer?
XM_011521593.1:c.742_743del XP_011519895.1:p.Met248ValfsTer?
NM_001330372.1:c.742_743del NP_001317301.1:p.Met248ValfsTer?
XM_017022208.1:c.742_743del XP_016877697.1:p.Met248ValfsTer?
XM_017022209.2:c.652_653del XP_016877698.1:p.Met218ValfsTer?
NM_002435.3:c.802_803del MANE Select NP_002426.1:p.Met268ValfsTer?
NM_001289155.2:c.802_803del NP_001276084.1:p.Met268ValfsTer?
NM_001289156.2:c.652_653del NP_001276085.1:p.Met218ValfsTer?
NM_001289157.2:c.619_620del NP_001276086.1:p.Met207ValfsTer?
NM_001330372.2:c.742_743del NP_001317301.1:p.Met248ValfsTer?