Canonical Allele Identifier: CA1202689060
Gene: MPZ HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.161306658_161306659delinsAT , CM000663.2:g.161306658_161306659delinsAT GRCh38
NC_000001.10:g.161276448_161276449delinsAT , CM000663.1:g.161276448_161276449delinsAT GRCh37
NC_000001.9:g.159543072_159543073delinsAT NCBI36
NG_008055.1:g.8314_8315delinsAT , LRG_256:g.8314_8315delinsAT

Transcript Alleles

HGVS Amino-acid Change
ENST00000526189.3:c.367+130_367+131delinsAT ENSP00000488104.2:n.367+130_367+131delinsAT
ENST00000533357.5:c.448+49_448+50delinsAT MANE Select ENSP00000432943.1:n.448+49_448+50delinsAT
ENST00000672287.2:c.-141+49_-141+50delinsAT ENSP00000499818.2:n.-141+49_-141+50delinsAT
ENST00000672602.2:c.448+49_448+50delinsAT ENSP00000500814.2:n.448+49_448+50delinsAT
ENST00000674861.1:n.511+49_511+50delinsAT
ENST00000463290.5:c.448+49_448+50delinsAT ENSP00000431538.1:n.448+49_448+50delinsAT
ENST00000491222.5:c.-141+49_-141+50delinsAT ENSP00000431441.1:n.-141+49_-141+50delinsAT
ENST00000526189.2:c.111+130_111+131delinsAT
ENST00000533357.4:c.448+49_448+50delinsAT ENSP00000432943.1:n.448+49_448+50delinsAT
NM_000530.6:c.448+49_448+50delinsAT , LRG_256t1:c.448+49_448+50delinsAT NP_000521.2:n.448+49_448+50delinsAT
NM_000530.7:c.448+49_448+50delinsAT NP_000521.2:n.448+49_448+50delinsAT
NM_001315491.1:c.448+49_448+50delinsAT NP_001302420.1:n.448+49_448+50delinsAT
XM_017001321.2:c.478+49_478+50delinsAT XP_016856810.1:n.478+49_478+50delinsAT
NM_000530.8:c.448+49_448+50delinsAT MANE Select NP_000521.2:n.448+49_448+50delinsAT
NM_001315491.2:c.448+49_448+50delinsAT NP_001302420.1:n.448+49_448+50delinsAT