Canonical Allele Identifier: CA1008408830

Gene: MPZ

Linked Data

• dbSNP Id: rs1670292311
• gnomAD v3: 1-161307462-GC-G
• gnomAD v4: 1-161307462-GC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.161307465del , CM000663.2:g.161307465del	GRCh38
NC_000001.10:g.161277255del , CM000663.1:g.161277255del	GRCh37
NC_000001.9:g.159543879del	NCBI36
NG_008055.1:g.7510del , LRG_256:g.7510del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000526189.3:c.68-39del	ENSP00000488104.2:n.68-39del
ENST00000533357.5:c.68-39del MANE Select	ENSP00000432943.1:n.68-39del
ENST00000672287.2:c.-560del	ENSP00000499818.2:n.-560del
ENST00000672602.2:c.68-39del	ENSP00000500814.2:n.68-39del
ENST00000674861.1:n.131-39del
ENST00000463290.5:c.68-39del	ENSP00000431538.1:n.68-39del
ENST00000491222.5:c.-560del	ENSP00000431441.1:n.-560del
ENST00000533357.4:c.68-39del	ENSP00000432943.1:n.68-39del
NM_000530.6:c.68-39del , LRG_256t1:c.68-39del	NP_000521.2:n.68-39del
NM_000530.7:c.68-39del	NP_000521.2:n.68-39del
NM_001315491.1:c.68-39del	NP_001302420.1:n.68-39del
XM_017001321.2:c.98-39del	XP_016856810.1:n.98-39del
NM_000530.8:c.68-39del MANE Select	NP_000521.2:n.68-39del
NM_001315491.2:c.68-39del	NP_001302420.1:n.68-39del