Canonical Allele Identifier: CA1148233067

Gene: MPZ

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.161306690_161306693delinsCCCC , CM000663.2:g.161306690_161306693delinsCCCC	GRCh38
NC_000001.10:g.161276480_161276483delinsCCCC , CM000663.1:g.161276480_161276483delinsCCCC	GRCh37
NC_000001.9:g.159543104_159543107delinsCCCC	NCBI36
NG_008055.1:g.8280_8283delinsGGGG , LRG_256:g.8280_8283delinsGGGG

Transcript Alleles

HGVS	Amino-acid change
ENST00000526189.3:c.367+96_367+99delinsGGGG	ENSP00000488104.2:n.367+96_367+99delinsGG...
ENST00000533357.5:c.448+15_448+18delinsGGGG MANE Select	ENSP00000432943.1:n.448+15_448+18delinsGG...
ENST00000672287.2:c.-141+15_-141+18delinsGGGG	ENSP00000499818.2:n.-141+15_-141+18delins...
ENST00000672602.2:c.448+15_448+18delinsGGGG	ENSP00000500814.2:n.448+15_448+18delinsGG...
ENST00000674861.1:n.511+15_511+18delinsGGGG
ENST00000463290.5:c.448+15_448+18delinsGGGG	ENSP00000431538.1:n.448+15_448+18delinsGG...
ENST00000491222.5:c.-141+15_-141+18delinsGGGG	ENSP00000431441.1:n.-141+15_-141+18delins...
ENST00000526189.2:c.111+96_111+99delinsGGGG
ENST00000533357.4:c.448+15_448+18delinsGGGG	ENSP00000432943.1:n.448+15_448+18delinsGG...
NM_000530.6:c.448+15_448+18delinsGGGG , LRG_256t1:c.448+15_448+18delinsGGGG	NP_000521.2:n.448+15_448+18delinsGGGG
NM_000530.7:c.448+15_448+18delinsGGGG	NP_000521.2:n.448+15_448+18delinsGGGG
NM_001315491.1:c.448+15_448+18delinsGGGG	NP_001302420.1:n.448+15_448+18delinsGGGG
XM_017001321.2:c.478+15_478+18delinsGGGG	XP_016856810.1:n.478+15_478+18delinsGGGG
NM_000530.8:c.448+15_448+18delinsGGGG MANE Select	NP_000521.2:n.448+15_448+18delinsGGGG
NM_001315491.2:c.448+15_448+18delinsGGGG	NP_001302420.1:n.448+15_448+18delinsGGGG