Canonical Allele Identifier: CA2586967653

Gene: MPZ

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.161306122del , CM000663.2:g.161306122del	GRCh38
NC_000001.10:g.161275912del , CM000663.1:g.161275912del	GRCh37
NC_000001.9:g.159542536del	NCBI36
NG_008055.1:g.8852del , LRG_256:g.8852del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000526189.3:c.551del	ENSP00000488104.2:p.Lys184SerfsTer?
ENST00000533357.5:c.632del MANE Select	ENSP00000432943.1:p.Lys211SerfsTer?
ENST00000672287.2:c.44del	ENSP00000499818.2:p.Lys15SerfsTer?
ENST00000672602.2:c.632del	ENSP00000500814.2:p.Lys211SerfsTer?
ENST00000674861.1:n.695del
ENST00000463290.5:c.632del	ENSP00000431538.1:p.Lys211SerfsTer?
ENST00000476410.1:n.92del
ENST00000488271.1:n.70del
ENST00000491222.5:c.44del	ENSP00000431441.1:p.Lys15SerfsTer?
ENST00000526189.2:c.295del
ENST00000533357.4:c.632del	ENSP00000432943.1:p.Lys211SerfsTer?
NM_000530.6:c.632del , LRG_256t1:c.632del	NP_000521.2:p.Lys211SerfsTer?
NM_000530.7:c.632del	NP_000521.2:p.Lys211SerfsTer?
NM_001315491.1:c.632del	NP_001302420.1:p.Lys211SerfsTer?
XM_017001321.2:c.662del	XP_016856810.1:p.Lys221SerfsTer12
NM_000530.8:c.632del MANE Select	NP_000521.2:p.Lys211SerfsTer?
NM_001315491.2:c.632del	NP_001302420.1:p.Lys211SerfsTer?