Canonical Allele Identifier: CA619413193
Gene: MPI HGNC NCBI

Linked Data

dbSNP Id: rs1284464364

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.74890557_74890576del , CM000677.2:g.74890557_74890576del GRCh38
NC_000015.9:g.75182898_75182917del , CM000677.1:g.75182898_75182917del GRCh37
NC_000015.8:g.72969951_72969970del NCBI36
NG_008921.1:g.5489_5508del

Transcript Alleles

HGVS Amino-acid Change
ENST00000352410.9:c.47_66del MANE Select ENSP00000318318.6:p.Tyr16PhefsTer13
ENST00000323744.10:c.47_66del ENSP00000318192.6:p.Tyr16PhefsTer13
ENST00000352410.8:c.47_66del ENSP00000318318.6:p.Tyr16PhefsTer13
ENST00000535694.5:c.-7+468_-7+487del ENSP00000440447.1:n.-7+468_-7+487del
ENST00000561470.5:c.159_178del ENSP00000454267.1:p.Cys54ProfsTer?
ENST00000562606.5:c.-14_6del
ENST00000562800.5:c.47_66del ENSP00000457619.1:p.Tyr16PhefsTer13
ENST00000563422.5:c.47_66del ENSP00000457885.1:p.Tyr16PhefsTer13
ENST00000563786.5:c.-14_6del
ENST00000564003.5:c.-7+468_-7+487del ENSP00000454312.1:n.-7+468_-7+487del
ENST00000564633.5:c.-14_6del
ENST00000565576.5:c.47_66del ENSP00000454619.1:p.Tyr16PhefsTer13
ENST00000566377.5:c.47_66del ENSP00000455405.1:p.Tyr16PhefsTer13
ENST00000567116.5:n.78_97del
ENST00000567132.5:c.47_66del ENSP00000455972.1:p.Tyr16PhefsTer13
ENST00000567177.1:c.8_27del ENSP00000457013.1:p.Tyr3PhefsTer13
ENST00000567570.5:c.-14_6del
ENST00000568303.1:n.164_183del
ENST00000568828.5:c.47_66del ENSP00000455065.1:p.Tyr16PhefsTer13
ENST00000568840.1:n.156_175del
ENST00000568907.5:c.47_66del ENSP00000457494.1:p.Tyr16PhefsTer13
ENST00000569233.5:c.47_66del ENSP00000454622.1:p.Tyr16PhefsTer13
ENST00000569931.5:c.-14_6del
NM_001289155.1:c.47_66del NP_001276084.1:p.Tyr16PhefsTer13
NM_001289156.1:c.-7+468_-7+487del NP_001276085.1:n.-7+468_-7+487del
NM_001289157.1:c.47_66del NP_001276086.1:p.Tyr16PhefsTer13
NM_002435.2:c.47_66del NP_002426.1:p.Tyr16PhefsTer13
XM_011521592.1:c.35_54del XP_011519894.1:p.Tyr12PhefsTer13
XM_011521593.1:c.-14_6del
NM_001330372.1:c.-14_6del
XM_017022208.1:c.-14_6del
XM_017022209.2:c.-7+468_-7+487del XP_016877698.1:n.-7+468_-7+487del
NM_002435.3:c.47_66del MANE Select NP_002426.1:p.Tyr16PhefsTer13
NM_001289155.2:c.47_66del NP_001276084.1:p.Tyr16PhefsTer13
NM_001289156.2:c.-7+468_-7+487del NP_001276085.1:n.-7+468_-7+487del
NM_001289157.2:c.47_66del NP_001276086.1:p.Tyr16PhefsTer13
NM_001330372.2:c.-14_6del