Canonical Allele Identifier: CA1725939172

Gene: PEX1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92504894_92504895delinsGC , CM000669.2:g.92504894_92504895delinsGC	GRCh38
NC_000007.13:g.92134208_92134209delinsGC , CM000669.1:g.92134208_92134209delinsGC	GRCh37
NC_000007.12:g.91972144_91972145delinsGC	NCBI36
NG_008341.1:g.28637_28638delinsGC
NG_008341.2:g.28637_28638delinsGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.1908_1909delinsGC MANE Select	ENSP00000248633.4:p.Arg636=
ENST00000248633.8:c.1908_1909delinsGC	ENSP00000248633.4:p.Arg636=
ENST00000422866.1:c.726_727delinsGC
ENST00000428214.5:c.1900+1353_1900+1354delinsGC	ENSP00000394413.1:n.1900+1353_1900+1354delinsGC
ENST00000438045.5:c.942_943delinsGC	ENSP00000410438.1:p.Arg314=
ENST00000484913.5:n.1947_1948delinsGC
ENST00000496420.5:n.1584_1585delinsGC
NM_000466.2:c.1908_1909delinsGC	NP_000457.1:p.Arg636=
NM_001282677.1:c.1900+1353_1900+1354delinsGC	NP_001269606.1:n.1900+1353_1900+1354delinsGC
NM_001282678.1:c.1284_1285delinsGC	NP_001269607.1:p.Arg428=
XM_005250433.3:c.159_160delinsGC	XP_005250490.1:p.Arg53=
XR_242246.3:n.2004_2005delinsGC
XM_017012319.2:c.159_160delinsGC	XP_016867808.1:p.Arg53=
XR_001744808.2:n.935_936delinsGC
XR_242246.5:n.1955_1956delinsGC
NM_000466.3:c.1908_1909delinsGC MANE Select	NP_000457.1:p.Arg636=
NM_001282677.2:c.1900+1353_1900+1354delinsGC	NP_001269606.1:n.1900+1353_1900+1354delinsGC
NM_001282678.2:c.1284_1285delinsGC	NP_001269607.1:p.Arg428=