Canonical Allele Identifier: CA915943855

Gene: MPZ

Linked Data

• ClinVar Variation Id: 637318
• ClinVar RCV Id: RCV000789422
• dbSNP Id: rs1571817499

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.161306125_161306129del , CM000663.2:g.161306125_161306129del	GRCh38
NC_000001.10:g.161275915_161275919del , CM000663.1:g.161275915_161275919del	GRCh37
NC_000001.9:g.159542539_159542543del	NCBI36
NG_008055.1:g.8846_8850del , LRG_256:g.8846_8850del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000526189.3:c.545_549del	ENSP00000488104.2:p.Ala182GlufsTer24
ENST00000533357.5:c.626_630del MANE Select	ENSP00000432943.1:p.Ala209GlufsTer24
ENST00000672287.2:c.38_42del	ENSP00000499818.2:p.Ala13GlufsTer24
ENST00000672602.2:c.626_630del	ENSP00000500814.2:p.Ala209GlufsTer24
ENST00000674861.1:n.689_693del
ENST00000463290.5:c.626_630del	ENSP00000431538.1:p.Ala209GlufsTer24
ENST00000476410.1:n.86_90del
ENST00000488271.1:n.64_68del
ENST00000491222.5:c.38_42del	ENSP00000431441.1:p.Ala13GlufsTer24
ENST00000526189.2:c.289_293del
ENST00000533357.4:c.626_630del	ENSP00000432943.1:p.Ala209GlufsTer24
NM_000530.6:c.626_630del , LRG_256t1:c.626_630del	NP_000521.2:p.Ala209GlufsTer24
NM_000530.7:c.626_630del	NP_000521.2:p.Ala209GlufsTer24
NM_001315491.1:c.626_630del	NP_001302420.1:p.Ala209GlufsTer24
XM_017001321.2:c.656_660del	XP_016856810.1:p.Ala219GlufsTer9
NM_000530.8:c.626_630del MANE Select	NP_000521.2:p.Ala209GlufsTer24
NM_001315491.2:c.626_630del	NP_001302420.1:p.Ala209GlufsTer24