Canonical Allele Identifier: CA619413141
Gene: MPI HGNC NCBI

Linked Data

dbSNP Id: rs1304511576

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.74896196del , CM000677.2:g.74896196del GRCh38
NC_000015.9:g.75188537del , CM000677.1:g.75188537del GRCh37
NC_000015.8:g.72975590del NCBI36
NG_008921.1:g.11128del

Transcript Alleles

HGVS Amino-acid Change
ENST00000352410.9:c.715del MANE Select ENSP00000318318.6:p.Leu239TyrfsTer19
ENST00000323744.10:c.532del ENSP00000318192.6:p.Leu178TyrfsTer19
ENST00000352410.8:c.715del ENSP00000318318.6:p.Leu239TyrfsTer19
ENST00000535694.5:c.565del ENSP00000440447.1:p.Leu189TyrfsTer19
ENST00000562606.5:c.655del ENSP00000457020.1:p.Leu219TyrfsTer19
ENST00000562800.5:c.256-1343del ENSP00000457619.1:n.256-1343del
ENST00000563422.5:c.715del ENSP00000457885.1:p.Leu239TyrfsTer19
ENST00000563786.5:c.655del ENSP00000455241.1:p.Leu219TyrfsTer19
ENST00000564003.5:c.382del ENSP00000454312.1:p.Leu128TyrfsTer19
ENST00000566377.5:c.715del ENSP00000455405.1:p.Leu239TyrfsTer19
ENST00000566556.1:n.763del
ENST00000567177.1:c.493del ENSP00000457013.1:p.Leu165TyrfsTer19
ENST00000569931.5:c.655del ENSP00000455161.1:p.Leu219TyrfsTer19
NM_001289155.1:c.715del NP_001276084.1:p.Leu239TyrfsTer19
NM_001289156.1:c.565del NP_001276085.1:p.Leu189TyrfsTer19
NM_001289157.1:c.532del NP_001276086.1:p.Leu178TyrfsTer19
NM_002435.2:c.715del NP_002426.1:p.Leu239TyrfsTer19
XM_011521592.1:c.703del XP_011519894.1:p.Leu235TyrfsTer19
XM_011521593.1:c.655del XP_011519895.1:p.Leu219TyrfsTer19
NM_001330372.1:c.655del NP_001317301.1:p.Leu219TyrfsTer19
XM_017022208.1:c.655del XP_016877697.1:p.Leu219TyrfsTer19
XM_017022209.2:c.565del XP_016877698.1:p.Leu189TyrfsTer19
NM_002435.3:c.715del MANE Select NP_002426.1:p.Leu239TyrfsTer19
NM_001289155.2:c.715del NP_001276084.1:p.Leu239TyrfsTer19
NM_001289156.2:c.565del NP_001276085.1:p.Leu189TyrfsTer19
NM_001289157.2:c.532del NP_001276086.1:p.Leu178TyrfsTer19
NM_001330372.2:c.655del NP_001317301.1:p.Leu219TyrfsTer19