Canonical Allele Identifier: CA1202689731

Gene: MPZ

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.161306862_161306866delinsGCGCT , CM000663.2:g.161306862_161306866delinsGCGCT	GRCh38
NC_000001.10:g.161276652_161276656delinsGCGCT , CM000663.1:g.161276652_161276656delinsGCGCT	GRCh37
NC_000001.9:g.159543276_159543280delinsGCGCT	NCBI36
NG_008055.1:g.8107_8111delinsAGCGC , LRG_256:g.8107_8111delinsAGCGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000526189.3:c.290_294delinsAGCGC	ENSP00000488104.2:p.Glu97=
ENST00000533357.5:c.290_294delinsAGCGC MANE Select	ENSP00000432943.1:p.Glu97=
ENST00000672287.2:c.-299_-295delinsAGCGC	ENSP00000499818.2:n.-299_-295delinsAGCGC
ENST00000672602.2:c.290_294delinsAGCGC	ENSP00000500814.2:p.Glu97=
ENST00000674861.1:n.353_357delinsAGCGC
ENST00000463290.5:c.290_294delinsAGCGC	ENSP00000431538.1:p.Glu97=
ENST00000491222.5:c.-299_-295delinsAGCGC	ENSP00000431441.1:n.-299_-295delinsAGCGC
ENST00000526189.2:c.34_38delinsAGCGC
ENST00000533357.4:c.290_294delinsAGCGC	ENSP00000432943.1:p.Glu97=
NM_000530.6:c.290_294delinsAGCGC , LRG_256t1:c.290_294delinsAGCGC	NP_000521.2:p.Glu97=
NM_000530.7:c.290_294delinsAGCGC	NP_000521.2:p.Glu97=
NM_001315491.1:c.290_294delinsAGCGC	NP_001302420.1:p.Glu97=
XM_017001321.2:c.320_324delinsAGCGC	XP_016856810.1:p.Glu107=
NM_000530.8:c.290_294delinsAGCGC MANE Select	NP_000521.2:p.Glu97=
NM_001315491.2:c.290_294delinsAGCGC	NP_001302420.1:p.Glu97=