Canonical Allele Identifier: CA658653649

Gene: MPZ

Linked Data

• ClinVar Variation Id: 444185
• ClinVar RCV Id: RCV000513141 ; RCV001060274
• dbSNP Id: rs1553259697
• MyVariant Identifiers: chr1:g.161276675_161276676insGTCAA (hg19) ; chr1:g.161306885_161306886insGTCAA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.161306886_161306890dup , CM000663.2:g.161306886_161306890dup	GRCh38
NC_000001.10:g.161276676_161276680dup , CM000663.1:g.161276676_161276680dup	GRCh37
NC_000001.9:g.159543300_159543304dup	NCBI36
NG_008055.1:g.8083_8087dup , LRG_256:g.8083_8087dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000526189.3:c.266_270dup	ENSP00000488104.2:p.Glu91LeufsTer14
ENST00000533357.5:c.266_270dup MANE Select	ENSP00000432943.1:p.Glu91LeufsTer14
ENST00000672287.2:c.-323_-319dup	ENSP00000499818.2:n.-323_-319dup
ENST00000672602.2:c.266_270dup	ENSP00000500814.2:p.Glu91LeufsTer14
ENST00000674861.1:n.329_333dup
ENST00000463290.5:c.266_270dup	ENSP00000431538.1:p.Glu91LeufsTer14
ENST00000491222.5:c.-323_-319dup	ENSP00000431441.1:n.-323_-319dup
ENST00000526189.2:c.10_14dup
ENST00000533357.4:c.266_270dup	ENSP00000432943.1:p.Glu91LeufsTer14
NM_000530.6:c.266_270dup , LRG_256t1:c.266_270dup	NP_000521.2:p.Glu91LeufsTer14
NM_000530.7:c.266_270dup	NP_000521.2:p.Glu91LeufsTer14
NM_001315491.1:c.266_270dup	NP_001302420.1:p.Glu91LeufsTer14
XM_017001321.2:c.296_300dup	XP_016856810.1:p.Glu101LeufsTer14
NM_000530.8:c.266_270dup MANE Select	NP_000521.2:p.Glu91LeufsTer14
NM_001315491.2:c.266_270dup	NP_001302420.1:p.Glu91LeufsTer14