Canonical Allele Identifier: CA2648773430

Gene: MPZ

Linked Data

• gnomAD v4: 1-161306823-G-GGA

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.161306825_161306826dup , CM000663.2:g.161306825_161306826dup	GRCh38
NC_000001.10:g.161276615_161276616dup , CM000663.1:g.161276615_161276616dup	GRCh37
NC_000001.9:g.159543239_159543240dup	NCBI36
NG_008055.1:g.8148_8149dup , LRG_256:g.8148_8149dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000526189.3:c.331_332dup	ENSP00000488104.2:p.Ile112ProfsTer7
ENST00000533357.5:c.331_332dup MANE Select	ENSP00000432943.1:p.Ile112ProfsTer7
ENST00000672287.2:c.-258_-257dup	ENSP00000499818.2:n.-258_-257dup
ENST00000672602.2:c.331_332dup	ENSP00000500814.2:p.Ile112ProfsTer7
ENST00000674861.1:n.394_395dup
ENST00000463290.5:c.331_332dup	ENSP00000431538.1:p.Ile112ProfsTer7
ENST00000491222.5:c.-258_-257dup	ENSP00000431441.1:n.-258_-257dup
ENST00000526189.2:c.75_76dup
ENST00000533357.4:c.331_332dup	ENSP00000432943.1:p.Ile112ProfsTer7
NM_000530.6:c.331_332dup , LRG_256t1:c.331_332dup	NP_000521.2:p.Ile112ProfsTer7
NM_000530.7:c.331_332dup	NP_000521.2:p.Ile112ProfsTer7
NM_001315491.1:c.331_332dup	NP_001302420.1:p.Ile112ProfsTer7
XM_017001321.2:c.361_362dup	XP_016856810.1:p.Ile122ProfsTer7
NM_000530.8:c.331_332dup MANE Select	NP_000521.2:p.Ile112ProfsTer7
NM_001315491.2:c.331_332dup	NP_001302420.1:p.Ile112ProfsTer7