Canonical Allele Identifier: CA2648773140

Gene: MPZ

Linked Data

• gnomAD v4: 1-161305822-GC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.161305824del , CM000663.2:g.161305824del	GRCh38
NC_000001.10:g.161275614del , CM000663.1:g.161275614del	GRCh37
NC_000001.9:g.159542238del	NCBI36
NG_008055.1:g.9150del , LRG_256:g.9150del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000526189.3:c.*53del	ENSP00000488104.2:n.*53del
ENST00000533357.5:c.*53del MANE Select	ENSP00000432943.1:n.*53del
ENST00000672287.2:c.*53del	ENSP00000499818.2:n.*53del
ENST00000672602.2:c.800del	ENSP00000500814.2:p.Gly267AlafsTer4
ENST00000674861.1:n.863del
ENST00000463290.5:c.*53del	ENSP00000431538.1:n.*53del
ENST00000476410.1:n.390del
ENST00000488271.1:n.238del
ENST00000491222.5:c.*53del	ENSP00000431441.1:n.*53del
ENST00000526189.2:c.463del
ENST00000533357.4:c.*53del	ENSP00000432943.1:n.*53del
NM_000530.6:c.*53del , LRG_256t1:c.*53del	NP_000521.2:n.*53del
NM_000530.7:c.*53del	NP_000521.2:n.*53del
NM_001315491.1:c.800del	NP_001302420.1:p.Gly267AlafsTer4
XM_017001321.2:c.675+285del	XP_016856810.1:n.675+285del
NM_000530.8:c.*53del MANE Select	NP_000521.2:n.*53del
NM_001315491.2:c.800del	NP_001302420.1:p.Gly267AlafsTer4