Canonical Allele Identifier: CA1202689331

Gene: MPZ

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.161306758_161306760delinsGGA , CM000663.2:g.161306758_161306760delinsGGA	GRCh38
NC_000001.10:g.161276548_161276550delinsGGA , CM000663.1:g.161276548_161276550delinsGGA	GRCh37
NC_000001.9:g.159543172_159543174delinsGGA	NCBI36
NG_008055.1:g.8213_8215delinsTCC , LRG_256:g.8213_8215delinsTCC

Transcript Alleles

HGVS	Amino-acid change
ENST00000526189.3:c.367+29_367+31delinsTCC	ENSP00000488104.2:n.367+29_367+31delinsTC...
ENST00000533357.5:c.396_398delinsTCC MANE Select	ENSP00000432943.1:p.Pro132=
ENST00000672287.2:c.-193_-191delinsTCC	ENSP00000499818.2:n.-193_-191delinsTCC
ENST00000672602.2:c.396_398delinsTCC	ENSP00000500814.2:p.Pro132=
ENST00000674861.1:n.459_461delinsTCC
ENST00000463290.5:c.396_398delinsTCC	ENSP00000431538.1:p.Pro132=
ENST00000491222.5:c.-193_-191delinsTCC	ENSP00000431441.1:n.-193_-191delinsTCC
ENST00000526189.2:c.111+29_111+31delinsTCC
ENST00000533357.4:c.396_398delinsTCC	ENSP00000432943.1:p.Pro132=
NM_000530.6:c.396_398delinsTCC , LRG_256t1:c.396_398delinsTCC	NP_000521.2:p.Pro132=
NM_000530.7:c.396_398delinsTCC	NP_000521.2:p.Pro132=
NM_001315491.1:c.396_398delinsTCC	NP_001302420.1:p.Pro132=
XM_017001321.2:c.426_428delinsTCC	XP_016856810.1:p.Pro142=
NM_000530.8:c.396_398delinsTCC MANE Select	NP_000521.2:p.Pro132=
NM_001315491.2:c.396_398delinsTCC	NP_001302420.1:p.Pro132=