Canonical Allele Identifier: CA1725941996

Gene: PEX1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92507000_92507054delinsTCCTGTGAGTAAAAGAGCTCCATTCCTAAGTCCTGCAACAAGAGACATCAGCTGC , CM000669.2:g.92507000_92507054delinsTCCTGTGAGTAAAAGAGCTCCATTCCTAAGTCCTGCAACAAGAGACATCAGCTGC	GRCh38
NC_000007.13:g.92136314_92136368delinsTCCTGTGAGTAAAAGAGCTCCATTCCTAAGTCCTGCAACAAGAGACATCAGCTGC , CM000669.1:g.92136314_92136368delinsTCCTGTGAGTAAAAGAGCTCCATTCCTAAGTCCTGCAACAAGAGACATCAGCTGC	GRCh37
NC_000007.12:g.91974250_91974304delinsTCCTGTGAGTAAAAGAGCTCCATTCCTAAGTCCTGCAACAAGAGACATCAGCTGC	NCBI36
NG_008341.1:g.26478_26532delinsGCAGCTGATGTCTCTTGTTGCAGGACTTAGGAATGGAGCTCTTTTACTCACAGGA
NG_008341.2:g.26478_26532delinsGCAGCTGATGTCTCTTGTTGCAGGACTTAGGAATGGAGCTCTTTTACTCACAGGA

Transcript Alleles

HGVS	Amino-acid change
ENST00000248633.9:c.1743_1797delinsGCAGCTGATGTCTCTTGTTGCAGGACTTAGGAATGGAGCTCTTTTACTCACAGGA MANE Select	ENSP00000248633.4:p.Arg581=
ENST00000248633.8:c.1743_1797delinsGCAGCTGATGTCTCTTGTTGCAGGACTTAGGAATGGAGCTCTTTTACTCACAGGA	ENSP00000248633.4:p.Arg581=
ENST00000422866.1:c.561_615delinsGCAGCTGATGTCTCTTGTTGCAGGACTTAGGAATGGAGCTCTTTTACTCACAGGA
ENST00000428214.5:c.1743_1797delinsGCAGCTGATGTCTCTTGTTGCAGGACTTAGGAATGGAGCTCTTTTACTCACAGGA	ENSP00000394413.1:p.Arg581=
ENST00000438045.5:c.777_831delinsGCAGCTGATGTCTCTTGTTGCAGGACTTAGGAATGGAGCTCTTTTACTCACAGGA	ENSP00000410438.1:p.Arg259=
ENST00000484913.5:n.1782_1836delinsGCAGCTGATGTCTCTTGTTGCAGGACTTAGGAATGGAGCTCTTTTACTCACAGGA
ENST00000496420.5:n.770_824delinsGCAGCTGATGTCTCTTGTTGCAGGACTTAGGAATGGAGCTCTTTTACTCACAGGA
NM_000466.2:c.1743_1797delinsGCAGCTGATGTCTCTTGTTGCAGGACTTAGGAATGGAGCTCTTTTACTCACAGGA	NP_000457.1:p.Arg581=
NM_001282677.1:c.1743_1797delinsGCAGCTGATGTCTCTTGTTGCAGGACTTAGGAATGGAGCTCTTTTACTCACAGGA	NP_001269606.1:p.Arg581=
NM_001282678.1:c.1119_1173delinsGCAGCTGATGTCTCTTGTTGCAGGACTTAGGAATGGAGCTCTTTTACTCACAGGA	NP_001269607.1:p.Arg373=
XM_005250433.3:c.-7_48delinsGCAGCTGATGTCTCTTGTTGCAGGACTTAGGAATGGAGCTCTTTTACTCACAGGA
XR_242246.3:n.1839_1893delinsGCAGCTGATGTCTCTTGTTGCAGGACTTAGGAATGGAGCTCTTTTACTCACAGGA
XM_017012319.2:c.-7_48delinsGCAGCTGATGTCTCTTGTTGCAGGACTTAGGAATGGAGCTCTTTTACTCACAGGA
XR_001744808.2:n.770_824delinsGCAGCTGATGTCTCTTGTTGCAGGACTTAGGAATGGAGCTCTTTTACTCACAGGA
XR_242246.5:n.1790_1844delinsGCAGCTGATGTCTCTTGTTGCAGGACTTAGGAATGGAGCTCTTTTACTCACAGGA
NM_000466.3:c.1743_1797delinsGCAGCTGATGTCTCTTGTTGCAGGACTTAGGAATGGAGCTCTTTTACTCACAGGA MANE Select	NP_000457.1:p.Arg581=
NM_001282677.2:c.1743_1797delinsGCAGCTGATGTCTCTTGTTGCAGGACTTAGGAATGGAGCTCTTTTACTCACAGGA	NP_001269606.1:p.Arg581=
NM_001282678.2:c.1119_1173delinsGCAGCTGATGTCTCTTGTTGCAGGACTTAGGAATGGAGCTCTTTTACTCACAGGA	NP_001269607.1:p.Arg373=