Canonical Allele Identifier: CA2580617633

Gene: MPZ

Linked Data

• ClinVar Variation Id: 2578457
• ClinVar RCV Id: RCV003326233

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.161307418_161307419delinsT , CM000663.2:g.161307418_161307419delinsT	GRCh38
NC_000001.10:g.161277208_161277209delinsT , CM000663.1:g.161277208_161277209delinsT	GRCh37
NC_000001.9:g.159543832_159543833delinsT	NCBI36
NG_008055.1:g.7554_7555delinsA , LRG_256:g.7554_7555delinsA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000526189.3:c.73_74delinsA	ENSP00000488104.2:p.Ser25ThrfsTer22
ENST00000533357.5:c.73_74delinsA MANE Select	ENSP00000432943.1:p.Ser25ThrfsTer22
ENST00000672287.2:c.-516_-515delinsA	ENSP00000499818.2:n.-516_-515delinsA
ENST00000672602.2:c.73_74delinsA	ENSP00000500814.2:p.Ser25ThrfsTer22
ENST00000674861.1:n.136_137delinsA
ENST00000463290.5:c.73_74delinsA	ENSP00000431538.1:p.Ser25ThrfsTer22
ENST00000491222.5:c.-516_-515delinsA	ENSP00000431441.1:n.-516_-515delinsA
ENST00000533357.4:c.73_74delinsA	ENSP00000432943.1:p.Ser25ThrfsTer22
NM_000530.6:c.73_74delinsA , LRG_256t1:c.73_74delinsA	NP_000521.2:p.Ser25ThrfsTer22
NM_000530.7:c.73_74delinsA	NP_000521.2:p.Ser25ThrfsTer22
NM_001315491.1:c.73_74delinsA	NP_001302420.1:p.Ser25ThrfsTer22
XM_017001321.2:c.103_104delinsA	XP_016856810.1:p.Ser35ThrfsTer22
NM_000530.8:c.73_74delinsA MANE Select	NP_000521.2:p.Ser25ThrfsTer22
NM_001315491.2:c.73_74delinsA	NP_001302420.1:p.Ser25ThrfsTer22