Canonical Allele Identifier: CA1202688997

Gene: MPZ

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.161306593_161306604delinsGAGCCTGAATAA , CM000663.2:g.161306593_161306604delinsGAGCCTGAATAA	GRCh38
NC_000001.10:g.161276383_161276394delinsGAGCCTGAATAA , CM000663.1:g.161276383_161276394delinsGAGCCTGAATAA	GRCh37
NC_000001.9:g.159543007_159543018delinsGAGCCTGAATAA	NCBI36
NG_008055.1:g.8369_8380delinsTTATTCAGGCTC , LRG_256:g.8369_8380delinsTTATTCAGGCTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000526189.3:c.368-140_368-129delinsTTATTCAGGCTC	ENSP00000488104.2:n.368-140_368-129delinsTTATTCAGGCTC
ENST00000533357.5:c.448+104_448+115delinsTTATTCAGGCTC MANE Select	ENSP00000432943.1:n.448+104_448+115delinsTTATTCAGGCTC
ENST00000672287.2:c.-141+104_-141+115delinsTTATTCAGGCTC	ENSP00000499818.2:n.-141+104_-141+115delinsTTATTCAGGCTC
ENST00000672602.2:c.448+104_448+115delinsTTATTCAGGCTC	ENSP00000500814.2:n.448+104_448+115delinsTTATTCAGGCTC
ENST00000674861.1:n.511+104_511+115delinsTTATTCAGGCTC
ENST00000463290.5:c.448+104_448+115delinsTTATTCAGGCTC	ENSP00000431538.1:n.448+104_448+115delinsTTATTCAGGCTC
ENST00000491222.5:c.-141+104_-141+115delinsTTATTCAGGCTC	ENSP00000431441.1:n.-141+104_-141+115delinsTTATTCAGGCTC
ENST00000526189.2:c.112-140_112-129delinsTTATTCAGGCTC
ENST00000533357.4:c.448+104_448+115delinsTTATTCAGGCTC	ENSP00000432943.1:n.448+104_448+115delinsTTATTCAGGCTC
NM_000530.6:c.448+104_448+115delinsTTATTCAGGCTC , LRG_256t1:c.448+104_448+115delinsTTATTCAGGCTC	NP_000521.2:n.448+104_448+115delinsTTATTCAGGCTC
NM_000530.7:c.448+104_448+115delinsTTATTCAGGCTC	NP_000521.2:n.448+104_448+115delinsTTATTCAGGCTC
NM_001315491.1:c.448+104_448+115delinsTTATTCAGGCTC	NP_001302420.1:n.448+104_448+115delinsTTATTCAGGCTC
XM_017001321.2:c.478+104_478+115delinsTTATTCAGGCTC	XP_016856810.1:n.478+104_478+115delinsTTATTCAGGCTC
NM_000530.8:c.448+104_448+115delinsTTATTCAGGCTC MANE Select	NP_000521.2:n.448+104_448+115delinsTTATTCAGGCTC
NM_001315491.2:c.448+104_448+115delinsTTATTCAGGCTC	NP_001302420.1:n.448+104_448+115delinsTTATTCAGGCTC