Canonical Allele Identifier: CA2695201651

Gene: MPZ

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.161307315dup , CM000663.2:g.161307315dup	GRCh38
NC_000001.10:g.161277105dup , CM000663.1:g.161277105dup	GRCh37
NC_000001.9:g.159543729dup	NCBI36
NG_008055.1:g.7658dup , LRG_256:g.7658dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000526189.3:c.177dup	ENSP00000488104.2:p.Asp60ArgfsTer2
ENST00000533357.5:c.177dup MANE Select	ENSP00000432943.1:p.Asp60ArgfsTer2
ENST00000672287.2:c.-412dup	ENSP00000499818.2:n.-412dup
ENST00000672602.2:c.177dup	ENSP00000500814.2:p.Asp60ArgfsTer2
ENST00000674861.1:n.240dup
ENST00000463290.5:c.177dup	ENSP00000431538.1:p.Asp60ArgfsTer2
ENST00000491222.5:c.-412dup	ENSP00000431441.1:n.-412dup
ENST00000533357.4:c.177dup	ENSP00000432943.1:p.Asp60ArgfsTer2
NM_000530.6:c.177dup , LRG_256t1:c.177dup	NP_000521.2:p.Asp60ArgfsTer2
NM_000530.7:c.177dup	NP_000521.2:p.Asp60ArgfsTer2
NM_001315491.1:c.177dup	NP_001302420.1:p.Asp60ArgfsTer2
XM_017001321.2:c.207dup	XP_016856810.1:p.Asp70ArgfsTer2
NM_000530.8:c.177dup MANE Select	NP_000521.2:p.Asp60ArgfsTer2
NM_001315491.2:c.177dup	NP_001302420.1:p.Asp60ArgfsTer2