Canonical Allele Identifier: CA915943876

Gene: MPZ

Linked Data

• ClinVar Variation Id: 637764
• ClinVar RCV Id: RCV000790065 ; RCV001044115 ; RCV001507502
• dbSNP Id: rs1571820186

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.161307355_161307362del , CM000663.2:g.161307355_161307362del	GRCh38
NC_000001.10:g.161277145_161277152del , CM000663.1:g.161277145_161277152del	GRCh37
NC_000001.9:g.159543769_159543776del	NCBI36
NG_008055.1:g.7611_7618del , LRG_256:g.7611_7618del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000526189.3:c.130_137del	ENSP00000488104.2:p.Ser44AspfsTer10
ENST00000533357.5:c.130_137del MANE Select	ENSP00000432943.1:p.Ser44AspfsTer10
ENST00000672287.2:c.-459_-452del	ENSP00000499818.2:n.-459_-452del
ENST00000672602.2:c.130_137del	ENSP00000500814.2:p.Ser44AspfsTer10
ENST00000674861.1:n.193_200del
ENST00000463290.5:c.130_137del	ENSP00000431538.1:p.Ser44AspfsTer10
ENST00000491222.5:c.-459_-452del	ENSP00000431441.1:n.-459_-452del
ENST00000533357.4:c.130_137del	ENSP00000432943.1:p.Ser44AspfsTer10
NM_000530.6:c.130_137del , LRG_256t1:c.130_137del	NP_000521.2:p.Ser44AspfsTer10
NM_000530.7:c.130_137del	NP_000521.2:p.Ser44AspfsTer10
NM_001315491.1:c.130_137del	NP_001302420.1:p.Ser44AspfsTer10
XM_017001321.2:c.160_167del	XP_016856810.1:p.Ser54AspfsTer10
NM_000530.8:c.130_137del MANE Select	NP_000521.2:p.Ser44AspfsTer10
NM_001315491.2:c.130_137del	NP_001302420.1:p.Ser44AspfsTer10