Canonical Allele Identifier: CA2586967674

Gene: MPZ

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.161307391_161307402dup , CM000663.2:g.161307391_161307402dup	GRCh38
NC_000001.10:g.161277181_161277192dup , CM000663.1:g.161277181_161277192dup	GRCh37
NC_000001.9:g.159543805_159543816dup	NCBI36
NG_008055.1:g.7573_7584dup , LRG_256:g.7573_7584dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000526189.3:c.92_103dup	ENSP00000488104.2:p.Thr34_Asp35insValValTyrThr
ENST00000533357.5:c.92_103dup MANE Select	ENSP00000432943.1:p.Thr34_Asp35insValValTyrThr
ENST00000672287.2:c.-497_-486dup	ENSP00000499818.2:n.-497_-486dup
ENST00000672602.2:c.92_103dup	ENSP00000500814.2:p.Thr34_Asp35insValValTyrThr
ENST00000674861.1:n.155_166dup
ENST00000463290.5:c.92_103dup	ENSP00000431538.1:p.Thr34_Asp35insValValTyrThr
ENST00000491222.5:c.-497_-486dup	ENSP00000431441.1:n.-497_-486dup
ENST00000533357.4:c.92_103dup	ENSP00000432943.1:p.Thr34_Asp35insValValTyrThr
NM_000530.6:c.92_103dup , LRG_256t1:c.92_103dup	NP_000521.2:p.Thr34_Asp35insValValTyrThr
NM_000530.7:c.92_103dup	NP_000521.2:p.Thr34_Asp35insValValTyrThr
NM_001315491.1:c.92_103dup	NP_001302420.1:p.Thr34_Asp35insValValTyrThr
XM_017001321.2:c.122_133dup	XP_016856810.1:p.Thr44_Asp45insValValTyrThr
NM_000530.8:c.92_103dup MANE Select	NP_000521.2:p.Thr34_Asp35insValValTyrThr
NM_001315491.2:c.92_103dup	NP_001302420.1:p.Thr34_Asp35insValValTyrThr