Canonical Allele Identifier: CA1725938736

Gene: PEX1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92504747_92504749delinsGGC , CM000669.2:g.92504747_92504749delinsGGC	GRCh38
NC_000007.13:g.92134061_92134063delinsGGC , CM000669.1:g.92134061_92134063delinsGGC	GRCh37
NC_000007.12:g.91971997_91971999delinsGGC	NCBI36
NG_008341.1:g.28783_28785delinsGCC
NG_008341.2:g.28783_28785delinsGCC

Transcript Alleles

HGVS	Amino-acid change
ENST00000248633.9:c.2054_2056delinsGCC MANE Select	ENSP00000248633.4:p.Ser685=
ENST00000248633.8:c.2054_2056delinsGCC	ENSP00000248633.4:p.Ser685=
ENST00000428214.5:c.1900+1499_1900+1501delinsGCC	ENSP00000394413.1:n.1900+1499_1900+1501de...
ENST00000438045.5:c.1088_1090delinsGCC	ENSP00000410438.1:p.Ser363=
ENST00000484913.5:n.2093_2095delinsGCC
ENST00000496420.5:n.1730_1732delinsGCC
NM_000466.2:c.2054_2056delinsGCC	NP_000457.1:p.Ser685=
NM_001282677.1:c.1900+1499_1900+1501delinsGCC	NP_001269606.1:n.1900+1499_1900+1501delin...
NM_001282678.1:c.1430_1432delinsGCC	NP_001269607.1:p.Ser477=
XM_005250433.3:c.305_307delinsGCC	XP_005250490.1:p.Ser102=
XR_242246.3:n.2150_2152delinsGCC
XM_017012319.2:c.305_307delinsGCC	XP_016867808.1:p.Ser102=
XR_001744808.2:n.1081_1083delinsGCC
XR_242246.5:n.2101_2103delinsGCC
NM_000466.3:c.2054_2056delinsGCC MANE Select	NP_000457.1:p.Ser685=
NM_001282677.2:c.1900+1499_1900+1501delinsGCC	NP_001269606.1:n.1900+1499_1900+1501delin...
NM_001282678.2:c.1430_1432delinsGCC	NP_001269607.1:p.Ser477=