Canonical Allele Identifier: CA2586967664

Gene: MPZ

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.161306796_161306798del , CM000663.2:g.161306796_161306798del	GRCh38
NC_000001.10:g.161276586_161276588del , CM000663.1:g.161276586_161276588del	GRCh37
NC_000001.9:g.159543210_159543212del	NCBI36
NG_008055.1:g.8175_8177del , LRG_256:g.8175_8177del

Transcript Alleles

HGVS	Amino-acid change
ENST00000526189.3:c.358_360del	ENSP00000488104.2:p.Ser120del
ENST00000533357.5:c.358_360del MANE Select	ENSP00000432943.1:p.Ser120del
ENST00000672287.2:c.-231_-229del	ENSP00000499818.2:n.-231_-229del
ENST00000672602.2:c.358_360del	ENSP00000500814.2:p.Ser120del
ENST00000674861.1:n.421_423del
ENST00000463290.5:c.358_360del	ENSP00000431538.1:p.Ser120del
ENST00000491222.5:c.-231_-229del	ENSP00000431441.1:n.-231_-229del
ENST00000526189.2:c.102_104del
ENST00000533357.4:c.358_360del	ENSP00000432943.1:p.Ser120del
NM_000530.6:c.358_360del , LRG_256t1:c.358_360del	NP_000521.2:p.Ser120del
NM_000530.7:c.358_360del	NP_000521.2:p.Ser120del
NM_001315491.1:c.358_360del	NP_001302420.1:p.Ser120del
XM_017001321.2:c.388_390del	XP_016856810.1:p.Ser130del
NM_000530.8:c.358_360del MANE Select	NP_000521.2:p.Ser120del
NM_001315491.2:c.358_360del	NP_001302420.1:p.Ser120del