Canonical Allele Identifier: CA2499214269

Gene: MPZ

Linked Data

• ClinVar Variation Id: 1076512
• ClinVar RCV Id: RCV001390456
• dbSNP Id: rs2102257572

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.161306115_161306116del , CM000663.2:g.161306115_161306116del	GRCh38
NC_000001.10:g.161275905_161275906del , CM000663.1:g.161275905_161275906del	GRCh37
NC_000001.9:g.159542529_159542530del	NCBI36
NG_008055.1:g.8858_8859del , LRG_256:g.8858_8859del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000526189.3:c.557_558del	ENSP00000488104.2:p.Gly186AlafsTer21
ENST00000533357.5:c.638_639del MANE Select	ENSP00000432943.1:p.Gly213AlafsTer21
ENST00000672287.2:c.50_51del	ENSP00000499818.2:p.Gly17AlafsTer21
ENST00000672602.2:c.638_639del	ENSP00000500814.2:p.Gly213AlafsTer21
ENST00000674861.1:n.701_702del
ENST00000463290.5:c.638_639del	ENSP00000431538.1:p.Gly213AlafsTer21
ENST00000476410.1:n.98_99del
ENST00000488271.1:n.76_77del
ENST00000491222.5:c.50_51del	ENSP00000431441.1:p.Gly17AlafsTer21
ENST00000526189.2:c.301_302del
ENST00000533357.4:c.638_639del	ENSP00000432943.1:p.Gly213AlafsTer21
NM_000530.6:c.638_639del , LRG_256t1:c.638_639del	NP_000521.2:p.Gly213AlafsTer21
NM_000530.7:c.638_639del	NP_000521.2:p.Gly213AlafsTer21
NM_001315491.1:c.638_639del	NP_001302420.1:p.Gly213AlafsTer21
XM_017001321.2:c.668_669del	XP_016856810.1:p.Gly223AlafsTer6
NM_000530.8:c.638_639del MANE Select	NP_000521.2:p.Gly213AlafsTer21
NM_001315491.2:c.638_639del	NP_001302420.1:p.Gly213AlafsTer21