Canonical Allele Identifier: CA1202688155
Gene: MPZ HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.161306075_161306076delinsTC , CM000663.2:g.161306075_161306076delinsTC GRCh38
NC_000001.10:g.161275865_161275866delinsTC , CM000663.1:g.161275865_161275866delinsTC GRCh37
NC_000001.9:g.159542489_159542490delinsTC NCBI36
NG_008055.1:g.8897_8898delinsGA , LRG_256:g.8897_8898delinsGA

Transcript Alleles

HGVS Amino-acid Change
ENST00000526189.3:c.564+32_564+33delinsGA ENSP00000488104.2:n.564+32_564+33delinsGA
ENST00000533357.5:c.645+32_645+33delinsGA MANE Select ENSP00000432943.1:n.645+32_645+33delinsGA
ENST00000672287.2:c.57+32_57+33delinsGA ENSP00000499818.2:n.57+32_57+33delinsGA
ENST00000672602.2:c.645+32_645+33delinsGA ENSP00000500814.2:n.645+32_645+33delinsGA
ENST00000674861.1:n.708+32_708+33delinsGA
ENST00000463290.5:c.645+32_645+33delinsGA ENSP00000431538.1:n.645+32_645+33delinsGA
ENST00000476410.1:n.137_138delinsGA
ENST00000488271.1:n.83+32_83+33delinsGA
ENST00000491222.5:c.57+32_57+33delinsGA ENSP00000431441.1:n.57+32_57+33delinsGA
ENST00000526189.2:c.308+32_308+33delinsGA
ENST00000533357.4:c.645+32_645+33delinsGA ENSP00000432943.1:n.645+32_645+33delinsGA
NM_000530.6:c.645+32_645+33delinsGA , LRG_256t1:c.645+32_645+33delinsGA NP_000521.2:n.645+32_645+33delinsGA
NM_000530.7:c.645+32_645+33delinsGA NP_000521.2:n.645+32_645+33delinsGA
NM_001315491.1:c.645+32_645+33delinsGA NP_001302420.1:n.645+32_645+33delinsGA
XM_017001321.2:c.675+32_675+33delinsGA XP_016856810.1:n.675+32_675+33delinsGA
NM_000530.8:c.645+32_645+33delinsGA MANE Select NP_000521.2:n.645+32_645+33delinsGA
NM_001315491.2:c.645+32_645+33delinsGA NP_001302420.1:n.645+32_645+33delinsGA