Canonical Allele Identifier: CA2832528859

Gene: MPZ

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.161306131_161306134dup , CM000663.2:g.161306131_161306134dup	GRCh38
NC_000001.10:g.161275921_161275924dup , CM000663.1:g.161275921_161275924dup	GRCh37
NC_000001.9:g.159542545_159542548dup	NCBI36
NG_008055.1:g.8840_8843dup , LRG_256:g.8840_8843dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000526189.3:c.539_542dup	ENSP00000488104.2:p.Asp181GlufsTer28
ENST00000533357.5:c.620_623dup MANE Select	ENSP00000432943.1:p.Asp208GlufsTer28
ENST00000672287.2:c.32_35dup	ENSP00000499818.2:p.Asp12GlufsTer28
ENST00000672602.2:c.620_623dup	ENSP00000500814.2:p.Asp208GlufsTer28
ENST00000674861.1:n.683_686dup
ENST00000463290.5:c.620_623dup	ENSP00000431538.1:p.Asp208GlufsTer28
ENST00000476410.1:n.80_83dup
ENST00000488271.1:n.58_61dup
ENST00000491222.5:c.32_35dup	ENSP00000431441.1:p.Asp12GlufsTer28
ENST00000526189.2:c.283_286dup
ENST00000533357.4:c.620_623dup	ENSP00000432943.1:p.Asp208GlufsTer28
NM_000530.6:c.620_623dup , LRG_256t1:c.620_623dup	NP_000521.2:p.Asp208GlufsTer28
NM_000530.7:c.620_623dup	NP_000521.2:p.Asp208GlufsTer28
NM_001315491.1:c.620_623dup	NP_001302420.1:p.Asp208GlufsTer28
XM_017001321.2:c.650_653dup	XP_016856810.1:p.Asp218GlufsTer13
NM_000530.8:c.620_623dup MANE Select	NP_000521.2:p.Asp208GlufsTer28
NM_001315491.2:c.620_623dup	NP_001302420.1:p.Asp208GlufsTer28