Canonical Allele Identifier: CA2695199902

Gene: MPZ

Linked Data

• ClinVar Variation Id: 2671834
• ClinVar RCV Id: RCV003448933

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.161306888_161306893del , CM000663.2:g.161306888_161306893del	GRCh38
NC_000001.10:g.161276678_161276683del , CM000663.1:g.161276678_161276683del	GRCh37
NC_000001.9:g.159543302_159543307del	NCBI36
NG_008055.1:g.8082_8087del , LRG_256:g.8082_8087del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000526189.3:c.265_270del	ENSP00000488104.2:p.Ile89_Asp90del
ENST00000533357.5:c.265_270del MANE Select	ENSP00000432943.1:p.Ile89_Asp90del
ENST00000672287.2:c.-324_-319del	ENSP00000499818.2:n.-324_-319del
ENST00000672602.2:c.265_270del	ENSP00000500814.2:p.Ile89_Asp90del
ENST00000674861.1:n.328_333del
ENST00000463290.5:c.265_270del	ENSP00000431538.1:p.Ile89_Asp90del
ENST00000491222.5:c.-324_-319del	ENSP00000431441.1:n.-324_-319del
ENST00000526189.2:c.9_14del
ENST00000533357.4:c.265_270del	ENSP00000432943.1:p.Ile89_Asp90del
NM_000530.6:c.265_270del , LRG_256t1:c.265_270del	NP_000521.2:p.Ile89_Asp90del
NM_000530.7:c.265_270del	NP_000521.2:p.Ile89_Asp90del
NM_001315491.1:c.265_270del	NP_001302420.1:p.Ile89_Asp90del
XM_017001321.2:c.295_300del	XP_016856810.1:p.Ile99_Asp100del
NM_000530.8:c.265_270del MANE Select	NP_000521.2:p.Ile89_Asp90del
NM_001315491.2:c.265_270del	NP_001302420.1:p.Ile89_Asp90del