Canonical Allele Identifier: CA916080240

Gene: MPZ

Linked Data

• ClinVar Variation Id: 835791
• ClinVar RCV Id: RCV001036759
• dbSNP Id: rs1670264356

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.161306820_161306823del , CM000663.2:g.161306820_161306823del	GRCh38
NC_000001.10:g.161276610_161276613del , CM000663.1:g.161276610_161276613del	GRCh37
NC_000001.9:g.159543234_159543237del	NCBI36
NG_008055.1:g.8150_8153del , LRG_256:g.8150_8153del

Transcript Alleles

HGVS	Amino-acid change
ENST00000526189.3:c.333_336del	ENSP00000488104.2:p.Ile112SerfsTer5
ENST00000533357.5:c.333_336del MANE Select	ENSP00000432943.1:p.Ile112SerfsTer5
ENST00000672287.2:c.-256_-253del	ENSP00000499818.2:n.-256_-253del
ENST00000672602.2:c.333_336del	ENSP00000500814.2:p.Ile112SerfsTer5
ENST00000674861.1:n.396_399del
ENST00000463290.5:c.333_336del	ENSP00000431538.1:p.Ile112SerfsTer5
ENST00000491222.5:c.-256_-253del	ENSP00000431441.1:n.-256_-253del
ENST00000526189.2:c.77_80del
ENST00000533357.4:c.333_336del	ENSP00000432943.1:p.Ile112SerfsTer5
NM_000530.6:c.333_336del , LRG_256t1:c.333_336del	NP_000521.2:p.Ile112SerfsTer5
NM_000530.7:c.333_336del	NP_000521.2:p.Ile112SerfsTer5
NM_001315491.1:c.333_336del	NP_001302420.1:p.Ile112SerfsTer5
XM_017001321.2:c.363_366del	XP_016856810.1:p.Ile122SerfsTer5
NM_000530.8:c.333_336del MANE Select	NP_000521.2:p.Ile112SerfsTer5
NM_001315491.2:c.333_336del	NP_001302420.1:p.Ile112SerfsTer5