Canonical Allele Identifier: CA1202687767

Gene: MPZ

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.161305898_161305899delinsTC , CM000663.2:g.161305898_161305899delinsTC	GRCh38
NC_000001.10:g.161275688_161275689delinsTC , CM000663.1:g.161275688_161275689delinsTC	GRCh37
NC_000001.9:g.159542312_159542313delinsTC	NCBI36
NG_008055.1:g.9074_9075delinsGA , LRG_256:g.9074_9075delinsGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000526189.3:c.643_644delinsGA	ENSP00000488104.2:p.Glu215=
ENST00000533357.5:c.724_725delinsGA MANE Select	ENSP00000432943.1:p.Glu242=
ENST00000672287.2:c.136_137delinsGA	ENSP00000499818.2:p.Glu46=
ENST00000672602.2:c.724_725delinsGA	ENSP00000500814.2:p.Glu242=
ENST00000674861.1:n.787_788delinsGA
ENST00000463290.5:c.724_725delinsGA	ENSP00000431538.1:p.Glu242=
ENST00000476410.1:n.314_315delinsGA
ENST00000488271.1:n.162_163delinsGA
ENST00000491222.5:c.136_137delinsGA	ENSP00000431441.1:p.Glu46=
ENST00000526189.2:c.387_388delinsGA
ENST00000533357.4:c.724_725delinsGA	ENSP00000432943.1:p.Glu242=
NM_000530.6:c.724_725delinsGA , LRG_256t1:c.724_725delinsGA	NP_000521.2:p.Glu242=
NM_000530.7:c.724_725delinsGA	NP_000521.2:p.Glu242=
NM_001315491.1:c.724_725delinsGA	NP_001302420.1:p.Glu242=
XM_017001321.2:c.675+209_675+210delinsGA	XP_016856810.1:n.675+209_675+210delinsGA
NM_000530.8:c.724_725delinsGA MANE Select	NP_000521.2:p.Glu242=
NM_001315491.2:c.724_725delinsGA	NP_001302420.1:p.Glu242=