Canonical Allele Identifier: CA2499214270

Gene: MPZ

Linked Data

• ClinVar Variation Id: 1070661
• ClinVar RCV Id: RCV001382904
• dbSNP Id: rs2102258958

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.161306811del , CM000663.2:g.161306811del	GRCh38
NC_000001.10:g.161276601del , CM000663.1:g.161276601del	GRCh37
NC_000001.9:g.159543225del	NCBI36
NG_008055.1:g.8162del , LRG_256:g.8162del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000526189.3:c.345del	ENSP00000488104.2:p.His115GlnfsTer3
ENST00000533357.5:c.345del MANE Select	ENSP00000432943.1:p.His115GlnfsTer3
ENST00000672287.2:c.-244del	ENSP00000499818.2:n.-244del
ENST00000672602.2:c.345del	ENSP00000500814.2:p.His115GlnfsTer3
ENST00000674861.1:n.408del
ENST00000463290.5:c.345del	ENSP00000431538.1:p.His115GlnfsTer3
ENST00000491222.5:c.-244del	ENSP00000431441.1:n.-244del
ENST00000526189.2:c.89del
ENST00000533357.4:c.345del	ENSP00000432943.1:p.His115GlnfsTer3
NM_000530.6:c.345del , LRG_256t1:c.345del	NP_000521.2:p.His115GlnfsTer3
NM_000530.7:c.345del	NP_000521.2:p.His115GlnfsTer3
NM_001315491.1:c.345del	NP_001302420.1:p.His115GlnfsTer3
XM_017001321.2:c.375del	XP_016856810.1:p.His125GlnfsTer3
NM_000530.8:c.345del MANE Select	NP_000521.2:p.His115GlnfsTer3
NM_001315491.2:c.345del	NP_001302420.1:p.His115GlnfsTer3