Canonical Allele Identifier: CA1140699371

Gene: MPZ

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.161306148_161306149delinsAA , CM000663.2:g.161306148_161306149delinsAA	GRCh38
NC_000001.10:g.161275938_161275939delinsAA , CM000663.1:g.161275938_161275939delinsAA	GRCh37
NC_000001.9:g.159542562_159542563delinsAA	NCBI36
NG_008055.1:g.8824_8825delinsTT , LRG_256:g.8824_8825delinsTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000526189.3:c.523_524delinsTT	ENSP00000488104.2:p.Leu175=
ENST00000533357.5:c.604_605delinsTT MANE Select	ENSP00000432943.1:p.Leu202=
ENST00000672287.2:c.16_17delinsTT	ENSP00000499818.2:p.Leu6=
ENST00000672602.2:c.604_605delinsTT	ENSP00000500814.2:p.Leu202=
ENST00000674861.1:n.667_668delinsTT
ENST00000463290.5:c.604_605delinsTT	ENSP00000431538.1:p.Leu202=
ENST00000476410.1:n.64_65delinsTT
ENST00000488271.1:n.42_43delinsTT
ENST00000491222.5:c.16_17delinsTT	ENSP00000431441.1:p.Leu6=
ENST00000526189.2:c.267_268delinsTT
ENST00000533357.4:c.604_605delinsTT	ENSP00000432943.1:p.Leu202=
NM_000530.6:c.604_605delinsTT , LRG_256t1:c.604_605delinsTT	NP_000521.2:p.Leu202=
NM_000530.7:c.604_605delinsTT	NP_000521.2:p.Leu202=
NM_001315491.1:c.604_605delinsTT	NP_001302420.1:p.Leu202=
XM_017001321.2:c.634_635delinsTT	XP_016856810.1:p.Leu212=
NM_000530.8:c.604_605delinsTT MANE Select	NP_000521.2:p.Leu202=
NM_001315491.2:c.604_605delinsTT	NP_001302420.1:p.Leu202=