Canonical Allele Identifier: CA2586967665

Gene: MPZ

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.161306801_161306803dup , CM000663.2:g.161306801_161306803dup	GRCh38
NC_000001.10:g.161276591_161276593dup , CM000663.1:g.161276591_161276593dup	GRCh37
NC_000001.9:g.159543215_159543217dup	NCBI36
NG_008055.1:g.8172_8174dup , LRG_256:g.8172_8174dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000526189.3:c.355_357dup	ENSP00000488104.2:p.Tyr119_Ser120insTyr
ENST00000533357.5:c.355_357dup MANE Select	ENSP00000432943.1:p.Tyr119_Ser120insTyr
ENST00000672287.2:c.-234_-232dup	ENSP00000499818.2:n.-234_-232dup
ENST00000672602.2:c.355_357dup	ENSP00000500814.2:p.Tyr119_Ser120insTyr
ENST00000674861.1:n.418_420dup
ENST00000463290.5:c.355_357dup	ENSP00000431538.1:p.Tyr119_Ser120insTyr
ENST00000491222.5:c.-234_-232dup	ENSP00000431441.1:n.-234_-232dup
ENST00000526189.2:c.99_101dup
ENST00000533357.4:c.355_357dup	ENSP00000432943.1:p.Tyr119_Ser120insTyr
NM_000530.6:c.355_357dup , LRG_256t1:c.355_357dup	NP_000521.2:p.Tyr119_Ser120insTyr
NM_000530.7:c.355_357dup	NP_000521.2:p.Tyr119_Ser120insTyr
NM_001315491.1:c.355_357dup	NP_001302420.1:p.Tyr119_Ser120insTyr
XM_017001321.2:c.385_387dup	XP_016856810.1:p.Tyr129_Ser130insTyr
NM_000530.8:c.355_357dup MANE Select	NP_000521.2:p.Tyr119_Ser120insTyr
NM_001315491.2:c.355_357dup	NP_001302420.1:p.Tyr119_Ser120insTyr