Canonical Allele Identifier: CA2580061301

Gene: MPZ

Linked Data

• ClinVar Variation Id: 2033569
• ClinVar RCV Id: RCV002872473

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.161305972_161305996dup , CM000663.2:g.161305972_161305996dup	GRCh38
NC_000001.10:g.161275762_161275786dup , CM000663.1:g.161275762_161275786dup	GRCh37
NC_000001.9:g.159542386_159542410dup	NCBI36
NG_008055.1:g.8980_9004dup , LRG_256:g.8980_9004dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000526189.3:c.565-16_573dup
ENST00000533357.5:c.646-16_654dup
ENST00000672287.2:c.58-16_66dup
ENST00000672602.2:c.646-16_654dup
ENST00000674861.1:n.709-16_717dup
ENST00000463290.5:c.646-16_654dup
ENST00000476410.1:n.220_244dup
ENST00000488271.1:n.84-16_92dup
ENST00000491222.5:c.58-16_66dup
ENST00000526189.2:c.309-16_317dup
ENST00000533357.4:c.646-16_654dup
NM_000530.6:c.646-16_654dup , LRG_256t1:c.646-16_654dup
NM_000530.7:c.646-16_654dup
NM_001315491.1:c.646-16_654dup
XM_017001321.2:c.675+115_675+139dup	XP_016856810.1:n.675+115_675+139dup
NM_000530.8:c.646-16_654dup
NM_001315491.2:c.646-16_654dup