Canonical Allele Identifier: CA1202689151

Gene: MPZ

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.161306722_161306725delinsTACA , CM000663.2:g.161306722_161306725delinsTACA	GRCh38
NC_000001.10:g.161276512_161276515delinsTACA , CM000663.1:g.161276512_161276515delinsTACA	GRCh37
NC_000001.9:g.159543136_159543139delinsTACA	NCBI36
NG_008055.1:g.8248_8251delinsTGTA , LRG_256:g.8248_8251delinsTGTA

Transcript Alleles

HGVS	Amino-acid change
ENST00000526189.3:c.367+64_367+67delinsTGTA	ENSP00000488104.2:n.367+64_367+67delinsTG...
ENST00000533357.5:c.431_434delinsTGTA MANE Select	ENSP00000432943.1:p.Leu144=
ENST00000672287.2:c.-158_-155delinsTGTA	ENSP00000499818.2:n.-158_-155delinsTGTA
ENST00000672602.2:c.431_434delinsTGTA	ENSP00000500814.2:p.Leu144=
ENST00000674861.1:n.494_497delinsTGTA
ENST00000463290.5:c.431_434delinsTGTA	ENSP00000431538.1:p.Leu144=
ENST00000491222.5:c.-158_-155delinsTGTA	ENSP00000431441.1:n.-158_-155delinsTGTA
ENST00000526189.2:c.111+64_111+67delinsTGTA
ENST00000533357.4:c.431_434delinsTGTA	ENSP00000432943.1:p.Leu144=
NM_000530.6:c.431_434delinsTGTA , LRG_256t1:c.431_434delinsTGTA	NP_000521.2:p.Leu144=
NM_000530.7:c.431_434delinsTGTA	NP_000521.2:p.Leu144=
NM_001315491.1:c.431_434delinsTGTA	NP_001302420.1:p.Leu144=
XM_017001321.2:c.461_464delinsTGTA	XP_016856810.1:p.Leu154=
NM_000530.8:c.431_434delinsTGTA MANE Select	NP_000521.2:p.Leu144=
NM_001315491.2:c.431_434delinsTGTA	NP_001302420.1:p.Leu144=