Canonical Allele Identifier: CA1725942011

Gene: PEX1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92507004_92507005delinsGT , CM000669.2:g.92507004_92507005delinsGT	GRCh38
NC_000007.13:g.92136318_92136319delinsGT , CM000669.1:g.92136318_92136319delinsGT	GRCh37
NC_000007.12:g.91974254_91974255delinsGT	NCBI36
NG_008341.1:g.26527_26528delinsAC
NG_008341.2:g.26527_26528delinsAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.1792_1793delinsAC MANE Select	ENSP00000248633.4:p.Thr598=
ENST00000248633.8:c.1792_1793delinsAC	ENSP00000248633.4:p.Thr598=
ENST00000422866.1:c.610_611delinsAC
ENST00000428214.5:c.1792_1793delinsAC	ENSP00000394413.1:p.Thr598=
ENST00000438045.5:c.826_827delinsAC	ENSP00000410438.1:p.Thr276=
ENST00000484913.5:n.1831_1832delinsAC
ENST00000496420.5:n.819_820delinsAC
NM_000466.2:c.1792_1793delinsAC	NP_000457.1:p.Thr598=
NM_001282677.1:c.1792_1793delinsAC	NP_001269606.1:p.Thr598=
NM_001282678.1:c.1168_1169delinsAC	NP_001269607.1:p.Thr390=
XM_005250433.3:c.43_44delinsAC	XP_005250490.1:p.Thr15=
XR_242246.3:n.1888_1889delinsAC
XM_017012319.2:c.43_44delinsAC	XP_016867808.1:p.Thr15=
XR_001744808.2:n.819_820delinsAC
XR_242246.5:n.1839_1840delinsAC
NM_000466.3:c.1792_1793delinsAC MANE Select	NP_000457.1:p.Thr598=
NM_001282677.2:c.1792_1793delinsAC	NP_001269606.1:p.Thr598=
NM_001282678.2:c.1168_1169delinsAC	NP_001269607.1:p.Thr390=