Canonical Allele Identifier: CA2648773158

Gene: MPZ

Linked Data

• gnomAD v4: 1-161305838-A-ACCCCAAAACCCCCAAACCCCCCCCCGC

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.161305842_161305843insAAAACCCCCAAACCCCCCCCCGCCCCC , CM000663.2:g.161305842_161305843insAAAACCCCCAAACCCCCCCCCGCCCCC	GRCh38
NC_000001.10:g.161275632_161275633insAAAACCCCCAAACCCCCCCCCGCCCCC , CM000663.1:g.161275632_161275633insAAAACCCCCAAACCCCCCCCCGCCCCC	GRCh37
NC_000001.9:g.159542256_159542257insAAAACCCCCAAACCCCCCCCCGCCCCC	NCBI36
NG_008055.1:g.9134_9135insGCGGGGGGGGGTTTGGGGGTTTTGGGG , LRG_256:g.9134_9135insGCGGGGGGGGGTTTGGGGGTTTTGGGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000526189.3:c.*37_*38insGCGGGGGGGGGTTTGGGGGTTTTGGGG	ENSP00000488104.2:n.*37_*38insGCGGGGGGGGGTTTGGGGGTTTTGGGG
ENST00000533357.5:c.*37_*38insGCGGGGGGGGGTTTGGGGGTTTTGGGG MANE Select	ENSP00000432943.1:n.*37_*38insGCGGGGGGGGGTTTGGGGGTTTTGGGG
ENST00000672287.2:c.*37_*38insGCGGGGGGGGGTTTGGGGGTTTTGGGG	ENSP00000499818.2:n.*37_*38insGCGGGGGGGGGTTTGGGGGTTTTGGGG
ENST00000672602.2:c.784_785insGCGGGGGGGGGTTTGGGGGTTTTGGGG	ENSP00000500814.2:p.Gly261_Val262insGlyGlyGlyGlyPheGlyGlyPheG...
ENST00000674861.1:n.847_848insGCGGGGGGGGGTTTGGGGGTTTTGGGG
ENST00000463290.5:c.*37_*38insGCGGGGGGGGGTTTGGGGGTTTTGGGG	ENSP00000431538.1:n.*37_*38insGCGGGGGGGGGTTTGGGGGTTTTGGGG
ENST00000476410.1:n.374_375insGCGGGGGGGGGTTTGGGGGTTTTGGGG
ENST00000488271.1:n.222_223insGCGGGGGGGGGTTTGGGGGTTTTGGGG
ENST00000491222.5:c.*37_*38insGCGGGGGGGGGTTTGGGGGTTTTGGGG	ENSP00000431441.1:n.*37_*38insGCGGGGGGGGGTTTGGGGGTTTTGGGG
ENST00000526189.2:c.447_448insGCGGGGGGGGGTTTGGGGGTTTTGGGG
ENST00000533357.4:c.*37_*38insGCGGGGGGGGGTTTGGGGGTTTTGGGG	ENSP00000432943.1:n.*37_*38insGCGGGGGGGGGTTTGGGGGTTTTGGGG
NM_000530.6:c.*37_*38insGCGGGGGGGGGTTTGGGGGTTTTGGGG , LRG_256t1:c.*37_*38insGCGGGGGGGGGTTTGGGGGTTTTGGGG	NP_000521.2:n.*37_*38insGCGGGGGGGGGTTTGGGGGTTTTGGGG
NM_000530.7:c.*37_*38insGCGGGGGGGGGTTTGGGGGTTTTGGGG	NP_000521.2:n.*37_*38insGCGGGGGGGGGTTTGGGGGTTTTGGGG
NM_001315491.1:c.784_785insGCGGGGGGGGGTTTGGGGGTTTTGGGG	NP_001302420.1:p.Gly261_Val262insGlyGlyGlyGlyPheGlyGlyPheGly
XM_017001321.2:c.675+269_675+270insGCGGGGGGGGGTTTGGGGGTTTTGGGG	XP_016856810.1:n.675+269_675+270insGCGGGGGGGGGTTTGGGGGTTTTGGG...
NM_000530.8:c.*37_*38insGCGGGGGGGGGTTTGGGGGTTTTGGGG MANE Select	NP_000521.2:n.*37_*38insGCGGGGGGGGGTTTGGGGGTTTTGGGG
NM_001315491.2:c.784_785insGCGGGGGGGGGTTTGGGGGTTTTGGGG	NP_001302420.1:p.Gly261_Val262insGlyGlyGlyGlyPheGlyGlyPheGly