Canonical Allele Identifier: CA658795556
Gene: MPZ HGNC NCBI

Linked Data

ClinVar Variation Id: 531696
ClinVar RCV Id: RCV000638179
dbSNP Id: rs1553259646

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.161306750_161306752del , CM000663.2:g.161306750_161306752del GRCh38
NC_000001.10:g.161276540_161276542del , CM000663.1:g.161276540_161276542del GRCh37
NC_000001.9:g.159543164_159543166del NCBI36
NG_008055.1:g.8222_8224del , LRG_256:g.8222_8224del

Transcript Alleles

HGVS Amino-acid Change
ENST00000526189.3:c.367+38_367+40del ENSP00000488104.2:n.367+38_367+40del
ENST00000533357.5:c.405_407del MANE Select ENSP00000432943.1:p.Ile135_Val136delinsMet
ENST00000672287.2:c.-184_-182del ENSP00000499818.2:n.-184_-182del
ENST00000672602.2:c.405_407del ENSP00000500814.2:p.Ile135_Val136delinsMet
ENST00000674861.1:n.468_470del
ENST00000463290.5:c.405_407del ENSP00000431538.1:p.Ile135_Val136delinsMet
ENST00000491222.5:c.-184_-182del ENSP00000431441.1:n.-184_-182del
ENST00000526189.2:c.111+38_111+40del
ENST00000533357.4:c.405_407del ENSP00000432943.1:p.Ile135_Val136delinsMet
NM_000530.6:c.405_407del , LRG_256t1:c.405_407del NP_000521.2:p.Ile135_Val136delinsMet
NM_000530.7:c.405_407del NP_000521.2:p.Ile135_Val136delinsMet
NM_001315491.1:c.405_407del NP_001302420.1:p.Ile135_Val136delinsMet
XM_017001321.2:c.435_437del XP_016856810.1:p.Ile145_Val146delinsMet
NM_000530.8:c.405_407del MANE Select NP_000521.2:p.Ile135_Val136delinsMet
NM_001315491.2:c.405_407del NP_001302420.1:p.Ile135_Val136delinsMet