Canonical Allele Identifier: CA645515742

Gene: MPZ

Linked Data

• COSMIC: COSM4564652 ; COSM4564653

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.161307359_161307360delinsAA , CM000663.2:g.161307359_161307360delinsAA	GRCh38
NC_000001.10:g.161277149_161277150delinsAA , CM000663.1:g.161277149_161277150delinsAA	GRCh37
NC_000001.9:g.159543773_159543774delinsAA	NCBI36
NG_008055.1:g.7613_7614delinsTT , LRG_256:g.7613_7614delinsTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000526189.3:c.132_133delinsTT	ENSP00000488104.2:p.Arg45Trp
ENST00000533357.5:c.132_133delinsTT MANE Select	ENSP00000432943.1:p.Arg45Trp
ENST00000672287.2:c.-457_-456delinsTT	ENSP00000499818.2:n.-457_-456delinsTT
ENST00000672602.2:c.132_133delinsTT	ENSP00000500814.2:p.Arg45Trp
ENST00000674861.1:n.195_196delinsTT
ENST00000463290.5:c.132_133delinsTT	ENSP00000431538.1:p.Arg45Trp
ENST00000491222.5:c.-457_-456delinsTT	ENSP00000431441.1:n.-457_-456delinsTT
ENST00000533357.4:c.132_133delinsTT	ENSP00000432943.1:p.Arg45Trp
NM_000530.6:c.132_133delinsTT , LRG_256t1:c.132_133delinsTT	NP_000521.2:p.Arg45Trp
NM_000530.7:c.132_133delinsTT	NP_000521.2:p.Arg45Trp
NM_001315491.1:c.132_133delinsTT	NP_001302420.1:p.Arg45Trp
XM_017001321.2:c.162_163delinsTT	XP_016856810.1:p.Arg55Trp
NM_000530.8:c.132_133delinsTT MANE Select	NP_000521.2:p.Arg45Trp
NM_001315491.2:c.132_133delinsTT	NP_001302420.1:p.Arg45Trp