Canonical Allele Identifier: CA1202689126

Gene: MPZ

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.161306718_161306722delinsGACAT , CM000663.2:g.161306718_161306722delinsGACAT	GRCh38
NC_000001.10:g.161276508_161276512delinsGACAT , CM000663.1:g.161276508_161276512delinsGACAT	GRCh37
NC_000001.9:g.159543132_159543136delinsGACAT	NCBI36
NG_008055.1:g.8251_8255delinsATGTC , LRG_256:g.8251_8255delinsATGTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000526189.3:c.367+67_367+71delinsATGTC	ENSP00000488104.2:n.367+67_367+71delinsATGTC
ENST00000533357.5:c.434_438delinsATGTC MANE Select	ENSP00000432943.1:p.Tyr145=
ENST00000672287.2:c.-155_-151delinsATGTC	ENSP00000499818.2:n.-155_-151delinsATGTC
ENST00000672602.2:c.434_438delinsATGTC	ENSP00000500814.2:p.Tyr145=
ENST00000674861.1:n.497_501delinsATGTC
ENST00000463290.5:c.434_438delinsATGTC	ENSP00000431538.1:p.Tyr145=
ENST00000491222.5:c.-155_-151delinsATGTC	ENSP00000431441.1:n.-155_-151delinsATGTC
ENST00000526189.2:c.111+67_111+71delinsATGTC
ENST00000533357.4:c.434_438delinsATGTC	ENSP00000432943.1:p.Tyr145=
NM_000530.6:c.434_438delinsATGTC , LRG_256t1:c.434_438delinsATGTC	NP_000521.2:p.Tyr145=
NM_000530.7:c.434_438delinsATGTC	NP_000521.2:p.Tyr145=
NM_001315491.1:c.434_438delinsATGTC	NP_001302420.1:p.Tyr145=
XM_017001321.2:c.464_468delinsATGTC	XP_016856810.1:p.Tyr155=
NM_000530.8:c.434_438delinsATGTC MANE Select	NP_000521.2:p.Tyr145=
NM_001315491.2:c.434_438delinsATGTC	NP_001302420.1:p.Tyr145=