Canonical Allele Identifier: CA1725939081

Gene: PEX1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92504875_92504876delinsGT , CM000669.2:g.92504875_92504876delinsGT	GRCh38
NC_000007.13:g.92134189_92134190delinsGT , CM000669.1:g.92134189_92134190delinsGT	GRCh37
NC_000007.12:g.91972125_91972126delinsGT	NCBI36
NG_008341.1:g.28656_28657delinsAC
NG_008341.2:g.28656_28657delinsAC

Transcript Alleles

HGVS	Amino-acid change
ENST00000248633.9:c.1927_1928delinsAC MANE Select	ENSP00000248633.4:p.Thr643=
ENST00000248633.8:c.1927_1928delinsAC	ENSP00000248633.4:p.Thr643=
ENST00000428214.5:c.1900+1372_1900+1373delinsAC	ENSP00000394413.1:n.1900+1372_1900+1373de...
ENST00000438045.5:c.961_962delinsAC	ENSP00000410438.1:p.Thr321=
ENST00000484913.5:n.1966_1967delinsAC
ENST00000496420.5:n.1603_1604delinsAC
NM_000466.2:c.1927_1928delinsAC	NP_000457.1:p.Thr643=
NM_001282677.1:c.1900+1372_1900+1373delinsAC	NP_001269606.1:n.1900+1372_1900+1373delin...
NM_001282678.1:c.1303_1304delinsAC	NP_001269607.1:p.Thr435=
XM_005250433.3:c.178_179delinsAC	XP_005250490.1:p.Thr60=
XR_242246.3:n.2023_2024delinsAC
XM_017012319.2:c.178_179delinsAC	XP_016867808.1:p.Thr60=
XR_001744808.2:n.954_955delinsAC
XR_242246.5:n.1974_1975delinsAC
NM_000466.3:c.1927_1928delinsAC MANE Select	NP_000457.1:p.Thr643=
NM_001282677.2:c.1900+1372_1900+1373delinsAC	NP_001269606.1:n.1900+1372_1900+1373delin...
NM_001282678.2:c.1303_1304delinsAC	NP_001269607.1:p.Thr435=