Canonical Allele Identifier: CA2586967654

Gene: MPZ

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.161306139_161306155dup , CM000663.2:g.161306139_161306155dup	GRCh38
NC_000001.10:g.161275929_161275945dup , CM000663.1:g.161275929_161275945dup	GRCh37
NC_000001.9:g.159542553_159542569dup	NCBI36
NG_008055.1:g.8818_8834dup , LRG_256:g.8818_8834dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000526189.3:c.517_533dup	ENSP00000488104.2:p.Lys180AsnfsTer?
ENST00000533357.5:c.598_614dup MANE Select	ENSP00000432943.1:p.Lys207AsnfsTer?
ENST00000672287.2:c.10_26dup	ENSP00000499818.2:p.Lys11AsnfsTer?
ENST00000672602.2:c.598_614dup	ENSP00000500814.2:p.Lys207AsnfsTer?
ENST00000674861.1:n.661_677dup
ENST00000463290.5:c.598_614dup	ENSP00000431538.1:p.Lys207AsnfsTer?
ENST00000476410.1:n.58_74dup
ENST00000488271.1:n.36_52dup
ENST00000491222.5:c.10_26dup	ENSP00000431441.1:p.Lys11AsnfsTer?
ENST00000526189.2:c.261_277dup
ENST00000533357.4:c.598_614dup	ENSP00000432943.1:p.Lys207AsnfsTer?
NM_000530.6:c.598_614dup , LRG_256t1:c.598_614dup	NP_000521.2:p.Lys207AsnfsTer?
NM_000530.7:c.598_614dup	NP_000521.2:p.Lys207AsnfsTer?
NM_001315491.1:c.598_614dup	NP_001302420.1:p.Lys207AsnfsTer?
XM_017001321.2:c.628_644dup	XP_016856810.1:p.Lys217AsnfsTer22
NM_000530.8:c.598_614dup MANE Select	NP_000521.2:p.Lys207AsnfsTer?
NM_001315491.2:c.598_614dup	NP_001302420.1:p.Lys207AsnfsTer?