Canonical Allele Identifier: CA1202689472
Gene: MPZ HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.161306787_161306788delinsGC , CM000663.2:g.161306787_161306788delinsGC GRCh38
NC_000001.10:g.161276577_161276578delinsGC , CM000663.1:g.161276577_161276578delinsGC GRCh37
NC_000001.9:g.159543201_159543202delinsGC NCBI36
NG_008055.1:g.8185_8186delinsGC , LRG_256:g.8185_8186delinsGC

Transcript Alleles

HGVS Amino-acid change
ENST00000526189.3:c.367+1_367+2delinsGC ENSP00000488104.2:n.367+1_367+2delinsGC
ENST00000533357.5:c.368_369delinsGC MANE Select ENSP00000432943.1:p.Gly123=
ENST00000672287.2:c.-221_-220delinsGC ENSP00000499818.2:n.-221_-220delinsGC
ENST00000672602.2:c.368_369delinsGC ENSP00000500814.2:p.Gly123=
ENST00000674861.1:n.431_432delinsGC
ENST00000463290.5:c.368_369delinsGC ENSP00000431538.1:p.Gly123=
ENST00000491222.5:c.-221_-220delinsGC ENSP00000431441.1:n.-221_-220delinsGC
ENST00000526189.2:c.111+1_111+2delinsGC
ENST00000533357.4:c.368_369delinsGC ENSP00000432943.1:p.Gly123=
NM_000530.6:c.368_369delinsGC , LRG_256t1:c.368_369delinsGC NP_000521.2:p.Gly123=
NM_000530.7:c.368_369delinsGC NP_000521.2:p.Gly123=
NM_001315491.1:c.368_369delinsGC NP_001302420.1:p.Gly123=
XM_017001321.2:c.398_399delinsGC XP_016856810.1:p.Gly133=
NM_000530.8:c.368_369delinsGC MANE Select NP_000521.2:p.Gly123=
NM_001315491.2:c.368_369delinsGC NP_001302420.1:p.Gly123=