Canonical Allele Identifier: CA7662558
Gene: MPI HGNC NCBI

Linked Data

dbSNP Id: rs771541177

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.74896373_74896374del , CM000677.2:g.74896373_74896374del GRCh38
NC_000015.9:g.75188714_75188715del , CM000677.1:g.75188714_75188715del GRCh37
NC_000015.8:g.72975767_72975768del NCBI36
NG_008921.1:g.11305_11306del

Transcript Alleles

HGVS Amino-acid Change
ENST00000352410.9:c.844+48_844+49del MANE Select ENSP00000318318.6:n.844+48_844+49del
ENST00000323744.10:c.661+48_661+49del ENSP00000318192.6:n.661+48_661+49del
ENST00000352410.8:c.844+48_844+49del ENSP00000318318.6:n.844+48_844+49del
ENST00000535694.5:c.694+48_694+49del ENSP00000440447.1:n.694+48_694+49del
ENST00000562606.5:c.832_833del ENSP00000457020.1:p.Leu278ValfsTer25
ENST00000562800.5:c.256-1166_256-1165del ENSP00000457619.1:n.256-1166_256-1165del
ENST00000563422.5:c.892_893del ENSP00000457885.1:p.Leu298ValfsTer25
ENST00000563786.5:c.784+48_784+49del ENSP00000455241.1:n.784+48_784+49del
ENST00000564003.5:c.559_560del ENSP00000454312.1:p.Leu187ValfsTer25
ENST00000566377.5:c.844+48_844+49del ENSP00000455405.1:n.844+48_844+49del
ENST00000566556.1:n.940_941del
ENST00000567177.1:c.622+48_622+49del ENSP00000457013.1:n.622+48_622+49del
ENST00000569931.5:c.784+48_784+49del ENSP00000455161.1:n.784+48_784+49del
NM_001289155.1:c.844+48_844+49del NP_001276084.1:n.844+48_844+49del
NM_001289156.1:c.694+48_694+49del NP_001276085.1:n.694+48_694+49del
NM_001289157.1:c.661+48_661+49del NP_001276086.1:n.661+48_661+49del
NM_002435.2:c.844+48_844+49del NP_002426.1:n.844+48_844+49del
XM_011521592.1:c.832+48_832+49del XP_011519894.1:n.832+48_832+49del
XM_011521593.1:c.784+48_784+49del XP_011519895.1:n.784+48_784+49del
NM_001330372.1:c.784+48_784+49del NP_001317301.1:n.784+48_784+49del
XM_017022208.1:c.784+48_784+49del XP_016877697.1:n.784+48_784+49del
XM_017022209.2:c.694+48_694+49del XP_016877698.1:n.694+48_694+49del
NM_002435.3:c.844+48_844+49del MANE Select NP_002426.1:n.844+48_844+49del
NM_001289155.2:c.844+48_844+49del NP_001276084.1:n.844+48_844+49del
NM_001289156.2:c.694+48_694+49del NP_001276085.1:n.694+48_694+49del
NM_001289157.2:c.661+48_661+49del NP_001276086.1:n.661+48_661+49del
NM_001330372.2:c.784+48_784+49del NP_001317301.1:n.784+48_784+49del