Canonical Allele Identifier: CA1202691017

Gene: MPZ

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.161307420_161307429delinsCAGCACTGCA , CM000663.2:g.161307420_161307429delinsCAGCACTGCA	GRCh38
NC_000001.10:g.161277210_161277219delinsCAGCACTGCA , CM000663.1:g.161277210_161277219delinsCAGCACTGCA	GRCh37
NC_000001.9:g.159543834_159543843delinsCAGCACTGCA	NCBI36
NG_008055.1:g.7544_7553delinsTGCAGTGCTG , LRG_256:g.7544_7553delinsTGCAGTGCTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000526189.3:c.68-5_72delinsTGCAGTGCTG
ENST00000533357.5:c.68-5_72delinsTGCAGTGCTG
ENST00000672287.2:c.-526_-517delinsTGCAGTGCTG	ENSP00000499818.2:n.-526_-517delinsTGCAGTGCTG
ENST00000672602.2:c.68-5_72delinsTGCAGTGCTG
ENST00000674861.1:n.131-5_135delinsTGCAGTGCTG
ENST00000463290.5:c.68-5_72delinsTGCAGTGCTG
ENST00000491222.5:c.-526_-517delinsTGCAGTGCTG	ENSP00000431441.1:n.-526_-517delinsTGCAGTGCTG
ENST00000533357.4:c.68-5_72delinsTGCAGTGCTG
NM_000530.6:c.68-5_72delinsTGCAGTGCTG , LRG_256t1:c.68-5_72delinsTGCAGTGCTG
NM_000530.7:c.68-5_72delinsTGCAGTGCTG
NM_001315491.1:c.68-5_72delinsTGCAGTGCTG
XM_017001321.2:c.98-5_102delinsTGCAGTGCTG
NM_000530.8:c.68-5_72delinsTGCAGTGCTG
NM_001315491.2:c.68-5_72delinsTGCAGTGCTG