Canonical Allele Identifier: CA16041747
Gene: MPI HGNC NCBI

Linked Data

ClinVar Variation Id: 370515
dbSNP Id: rs1057516550

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.74892804del , CM000677.2:g.74892804del GRCh38
NC_000015.9:g.75185145del , CM000677.1:g.75185145del GRCh37
NC_000015.8:g.72972198del NCBI36
NG_008921.1:g.7736del

Transcript Alleles

HGVS Amino-acid Change
ENST00000352410.9:c.487+2del MANE Select ENSP00000318318.6:n.487+2del
ENST00000323744.10:c.487+2del ENSP00000318192.6:n.487+2del
ENST00000352410.8:c.487+2del ENSP00000318318.6:n.487+2del
ENST00000535694.5:c.337+2del ENSP00000440447.1:n.337+2del
ENST00000561470.5:c.*383+2del ENSP00000454267.1:n.*383+2del
ENST00000562606.5:c.427+2del ENSP00000457020.1:n.427+2del
ENST00000562800.5:c.255+1315del ENSP00000457619.1:n.255+1315del
ENST00000563422.5:c.487+2del ENSP00000457885.1:n.487+2del
ENST00000563786.5:c.427+2del ENSP00000455241.1:n.427+2del
ENST00000564003.5:c.337+2del ENSP00000454312.1:n.337+2del
ENST00000564633.5:c.427+2del ENSP00000455383.1:n.427+2del
ENST00000565576.5:c.487+2del ENSP00000454619.1:n.487+2del
ENST00000566377.5:c.487+2del ENSP00000455405.1:n.487+2del
ENST00000567116.5:n.520del
ENST00000567132.5:c.445+2del ENSP00000455972.1:n.445+2del
ENST00000567177.1:c.448+2del ENSP00000457013.1:n.448+2del
ENST00000568828.5:c.451+2del ENSP00000455065.1:n.451+2del
ENST00000568840.1:n.598del
ENST00000568907.5:c.397+2del ENSP00000457494.1:n.397+2del
ENST00000569931.5:c.427+2del ENSP00000455161.1:n.427+2del
NM_001289155.1:c.487+2del NP_001276084.1:n.487+2del
NM_001289156.1:c.337+2del NP_001276085.1:n.337+2del
NM_001289157.1:c.487+2del NP_001276086.1:n.487+2del
NM_002435.2:c.487+2del NP_002426.1:n.487+2del
XM_011521592.1:c.475+2del XP_011519894.1:n.475+2del
XM_011521593.1:c.427+2del XP_011519895.1:n.427+2del
NM_001330372.1:c.427+2del NP_001317301.1:n.427+2del
XM_017022208.1:c.427+2del XP_016877697.1:n.427+2del
XM_017022209.2:c.337+2del XP_016877698.1:n.337+2del
NM_002435.3:c.487+2del MANE Select NP_002426.1:n.487+2del
NM_001289155.2:c.487+2del NP_001276084.1:n.487+2del
NM_001289156.2:c.337+2del NP_001276085.1:n.337+2del
NM_001289157.2:c.487+2del NP_001276086.1:n.487+2del
NM_001330372.2:c.427+2del NP_001317301.1:n.427+2del