Canonical Allele Identifier: CA1725933310

Gene: PEX1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92496716_92496717delinsAT , CM000669.2:g.92496716_92496717delinsAT	GRCh38
NC_000007.13:g.92126030_92126031delinsAT , CM000669.1:g.92126030_92126031delinsAT	GRCh37
NC_000007.12:g.91963966_91963967delinsAT	NCBI36
NG_008341.1:g.36815_36816delinsAT
NG_008341.2:g.36815_36816delinsAT

Transcript Alleles

HGVS	Amino-acid change
ENST00000248633.9:c.2779_2780delinsAT MANE Select	ENSP00000248633.4:p.Ile927=
ENST00000248633.8:c.2779_2780delinsAT	ENSP00000248633.4:p.Ile927=
ENST00000428214.5:c.2608_2609delinsAT	ENSP00000394413.1:p.Ile870=
ENST00000438045.5:c.1813_1814delinsAT	ENSP00000410438.1:p.Ile605=
ENST00000484913.5:n.2818_2819delinsAT
ENST00000496420.5:n.2671_2672delinsAT
NM_000466.2:c.2779_2780delinsAT	NP_000457.1:p.Ile927=
NM_001282677.1:c.2608_2609delinsAT	NP_001269606.1:p.Ile870=
NM_001282678.1:c.2155_2156delinsAT	NP_001269607.1:p.Ile719=
XM_005250433.3:c.1030_1031delinsAT	XP_005250490.1:p.Ile344=
XR_242246.3:n.2875_2876delinsAT
XM_017012319.2:c.1030_1031delinsAT	XP_016867808.1:p.Ile344=
XR_001744808.2:n.1806_1807delinsAT
XR_242246.5:n.2826_2827delinsAT
NM_000466.3:c.2779_2780delinsAT MANE Select	NP_000457.1:p.Ile927=
NM_001282677.2:c.2608_2609delinsAT	NP_001269606.1:p.Ile870=
NM_001282678.2:c.2155_2156delinsAT	NP_001269607.1:p.Ile719=