Canonical Allele Identifier: CA1725947897

Gene: PEX1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92517794_92517809delinsATGATGAGTCAACTGG , CM000669.2:g.92517794_92517809delinsATGATGAGTCAACTGG	GRCh38
NC_000007.13:g.92147108_92147123delinsATGATGAGTCAACTGG , CM000669.1:g.92147108_92147123delinsATGATGAGTCAACTGG	GRCh37
NC_000007.12:g.91985044_91985059delinsATGATGAGTCAACTGG	NCBI36
NG_008341.1:g.15723_15738delinsCCAGTTGACTCATCAT
NG_008341.2:g.15723_15738delinsCCAGTTGACTCATCAT

Transcript Alleles

HGVS	Amino-acid change
ENST00000248633.9:c.706_721delinsCCAGTTGACTCATCAT MANE Select	ENSP00000248633.4:p.Pro236=
ENST00000248633.8:c.706_721delinsCCAGTTGACTCATCAT	ENSP00000248633.4:p.Pro236=
ENST00000428214.5:c.706_721delinsCCAGTTGACTCATCAT	ENSP00000394413.1:p.Pro236=
ENST00000438045.5:c.274-3842_274-3827delinsCCAGTTGACTCATCAT	ENSP00000410438.1:n.274-3842_274-3827deli...
ENST00000484913.5:n.745_760delinsCCAGTTGACTCATCAT
NM_000466.2:c.706_721delinsCCAGTTGACTCATCAT	NP_000457.1:p.Pro236=
NM_001282677.1:c.706_721delinsCCAGTTGACTCATCAT	NP_001269606.1:p.Pro236=
NM_001282678.1:c.82_97delinsCCAGTTGACTCATCAT	NP_001269607.1:p.Pro28=
XR_242246.3:n.802_817delinsCCAGTTGACTCATCAT
XR_242246.5:n.753_768delinsCCAGTTGACTCATCAT
NM_000466.3:c.706_721delinsCCAGTTGACTCATCAT MANE Select	NP_000457.1:p.Pro236=
NM_001282677.2:c.706_721delinsCCAGTTGACTCATCAT	NP_001269606.1:p.Pro236=
NM_001282678.2:c.82_97delinsCCAGTTGACTCATCAT	NP_001269607.1:p.Pro28=