Canonical Allele Identifier: CA915943852

Gene: MPZ

Linked Data

• ClinVar Variation Id: 817625
• ClinVar RCV Id: RCV001008812 ; RCV003160168
• dbSNP Id: rs1571817103

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.161305923_161305926del , CM000663.2:g.161305923_161305926del	GRCh38
NC_000001.10:g.161275713_161275716del , CM000663.1:g.161275713_161275716del	GRCh37
NC_000001.9:g.159542337_159542340del	NCBI36
NG_008055.1:g.9049_9052del , LRG_256:g.9049_9052del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000526189.3:c.618_621del	ENSP00000488104.2:p.Ser206ArgfsTer18
ENST00000533357.5:c.699_702del MANE Select	ENSP00000432943.1:p.Ser233ArgfsTer18
ENST00000672287.2:c.111_114del	ENSP00000499818.2:p.Ser37ArgfsTer18
ENST00000672602.2:c.699_702del	ENSP00000500814.2:p.Ser233ArgfsTer18
ENST00000674861.1:n.762_765del
ENST00000463290.5:c.699_702del	ENSP00000431538.1:p.Ser233ArgfsTer18
ENST00000476410.1:n.289_292del
ENST00000488271.1:n.137_140del
ENST00000491222.5:c.111_114del	ENSP00000431441.1:p.Ser37ArgfsTer18
ENST00000526189.2:c.362_365del
ENST00000533357.4:c.699_702del	ENSP00000432943.1:p.Ser233ArgfsTer18
NM_000530.6:c.699_702del , LRG_256t1:c.699_702del	NP_000521.2:p.Ser233ArgfsTer18
NM_000530.7:c.699_702del	NP_000521.2:p.Ser233ArgfsTer18
NM_001315491.1:c.699_702del	NP_001302420.1:p.Ser233ArgfsTer18
XM_017001321.2:c.675+184_675+187del	XP_016856810.1:n.675+184_675+187del
NM_000530.8:c.699_702del MANE Select	NP_000521.2:p.Ser233ArgfsTer18
NM_001315491.2:c.699_702del	NP_001302420.1:p.Ser233ArgfsTer18