Canonical Allele Identifier: CA2648773191

Gene: MPZ

Linked Data

• gnomAD v4: 1-161305853-T-TCCCCC

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.161305854_161305858dup , CM000663.2:g.161305854_161305858dup	GRCh38
NC_000001.10:g.161275644_161275648dup , CM000663.1:g.161275644_161275648dup	GRCh37
NC_000001.9:g.159542268_159542272dup	NCBI36
NG_008055.1:g.9115_9119dup , LRG_256:g.9115_9119dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000526189.3:c.*18_*22dup	ENSP00000488104.2:n.*18_*22dup
ENST00000533357.5:c.*18_*22dup MANE Select	ENSP00000432943.1:n.*18_*22dup
ENST00000672287.2:c.*18_*22dup	ENSP00000499818.2:n.*18_*22dup
ENST00000672602.2:c.765_769dup	ENSP00000500814.2:p.Asp257GlyfsTer6
ENST00000674861.1:n.828_832dup
ENST00000463290.5:c.*18_*22dup	ENSP00000431538.1:n.*18_*22dup
ENST00000476410.1:n.355_359dup
ENST00000488271.1:n.203_207dup
ENST00000491222.5:c.*18_*22dup	ENSP00000431441.1:n.*18_*22dup
ENST00000526189.2:c.428_432dup
ENST00000533357.4:c.*18_*22dup	ENSP00000432943.1:n.*18_*22dup
NM_000530.6:c.*18_*22dup , LRG_256t1:c.*18_*22dup	NP_000521.2:n.*18_*22dup
NM_000530.7:c.*18_*22dup	NP_000521.2:n.*18_*22dup
NM_001315491.1:c.765_769dup	NP_001302420.1:p.Asp257GlyfsTer6
XM_017001321.2:c.675+250_675+254dup	XP_016856810.1:n.675+250_675+254dup
NM_000530.8:c.*18_*22dup MANE Select	NP_000521.2:n.*18_*22dup
NM_001315491.2:c.765_769dup	NP_001302420.1:p.Asp257GlyfsTer6