Canonical Allele Identifier: CA2776947545

Gene: PEX1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92519068_92519070del , CM000669.2:g.92519068_92519070del	GRCh38
NC_000007.13:g.92148382_92148384del , CM000669.1:g.92148382_92148384del	GRCh37
NC_000007.12:g.91986318_91986320del	NCBI36
NG_008341.1:g.14462_14464del
NG_008341.2:g.14462_14464del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.282_284del MANE Select	ENSP00000248633.4:p.Lys95del
ENST00000248633.8:c.282_284del	ENSP00000248633.4:p.Lys95del
ENST00000428214.5:c.282_284del	ENSP00000394413.1:p.Lys95del
ENST00000438045.5:c.273+3032_273+3034del	ENSP00000410438.1:n.273+3032_273+3034del
ENST00000484913.5:n.286_288del
NM_000466.2:c.282_284del	NP_000457.1:p.Lys95del
NM_001282677.1:c.282_284del	NP_001269606.1:p.Lys95del
NM_001282678.1:c.-378_-376del	NP_001269607.1:n.-378_-376del
XR_242246.3:n.378_380del
XR_242246.5:n.329_331del
NM_000466.3:c.282_284del MANE Select	NP_000457.1:p.Lys95del
NM_001282677.2:c.282_284del	NP_001269606.1:p.Lys95del
NM_001282678.2:c.-378_-376del	NP_001269607.1:n.-378_-376del