Canonical Allele Identifier: CA2573130608

Gene: MPZ

Linked Data

• ClinVar Variation Id: 1419179
• ClinVar RCV Id: RCV001954621
• dbSNP Id: rs2102259042

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.161306834del , CM000663.2:g.161306834del	GRCh38
NC_000001.10:g.161276624del , CM000663.1:g.161276624del	GRCh37
NC_000001.9:g.159543248del	NCBI36
NG_008055.1:g.8140del , LRG_256:g.8140del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000526189.3:c.323del	ENSP00000488104.2:p.Lys108ArgfsTer10
ENST00000533357.5:c.323del MANE Select	ENSP00000432943.1:p.Lys108ArgfsTer10
ENST00000672287.2:c.-266del	ENSP00000499818.2:n.-266del
ENST00000672602.2:c.323del	ENSP00000500814.2:p.Lys108ArgfsTer10
ENST00000674861.1:n.386del
ENST00000463290.5:c.323del	ENSP00000431538.1:p.Lys108ArgfsTer10
ENST00000491222.5:c.-266del	ENSP00000431441.1:n.-266del
ENST00000526189.2:c.67del
ENST00000533357.4:c.323del	ENSP00000432943.1:p.Lys108ArgfsTer10
NM_000530.6:c.323del , LRG_256t1:c.323del	NP_000521.2:p.Lys108ArgfsTer10
NM_000530.7:c.323del	NP_000521.2:p.Lys108ArgfsTer10
NM_001315491.1:c.323del	NP_001302420.1:p.Lys108ArgfsTer10
XM_017001321.2:c.353del	XP_016856810.1:p.Lys118ArgfsTer10
NM_000530.8:c.323del MANE Select	NP_000521.2:p.Lys108ArgfsTer10
NM_001315491.2:c.323del	NP_001302420.1:p.Lys108ArgfsTer10