Canonical Allele Identifier: CA915943871

Gene: MPZ

Linked Data

• ClinVar Variation Id: 637763
• ClinVar RCV Id: RCV000790064
• dbSNP Id: rs1571819196

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.161306864_161306867del , CM000663.2:g.161306864_161306867del	GRCh38
NC_000001.10:g.161276654_161276657del , CM000663.1:g.161276654_161276657del	GRCh37
NC_000001.9:g.159543278_159543281del	NCBI36
NG_008055.1:g.8107_8110del , LRG_256:g.8107_8110del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000526189.3:c.290_293del	ENSP00000488104.2:p.Glu97AlafsTer5
ENST00000533357.5:c.290_293del MANE Select	ENSP00000432943.1:p.Glu97AlafsTer5
ENST00000672287.2:c.-299_-296del	ENSP00000499818.2:n.-299_-296del
ENST00000672602.2:c.290_293del	ENSP00000500814.2:p.Glu97AlafsTer5
ENST00000674861.1:n.353_356del
ENST00000463290.5:c.290_293del	ENSP00000431538.1:p.Glu97AlafsTer5
ENST00000491222.5:c.-299_-296del	ENSP00000431441.1:n.-299_-296del
ENST00000526189.2:c.34_37del
ENST00000533357.4:c.290_293del	ENSP00000432943.1:p.Glu97AlafsTer5
NM_000530.6:c.290_293del , LRG_256t1:c.290_293del	NP_000521.2:p.Glu97AlafsTer5
NM_000530.7:c.290_293del	NP_000521.2:p.Glu97AlafsTer5
NM_001315491.1:c.290_293del	NP_001302420.1:p.Glu97AlafsTer5
XM_017001321.2:c.320_323del	XP_016856810.1:p.Glu107AlafsTer5
NM_000530.8:c.290_293del MANE Select	NP_000521.2:p.Glu97AlafsTer5
NM_001315491.2:c.290_293del	NP_001302420.1:p.Glu97AlafsTer5