Canonical Allele Identifier: CA1725933334

Gene: PEX1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92496735_92496736delinsCT , CM000669.2:g.92496735_92496736delinsCT	GRCh38
NC_000007.13:g.92126049_92126050delinsCT , CM000669.1:g.92126049_92126050delinsCT	GRCh37
NC_000007.12:g.91963985_91963986delinsCT	NCBI36
NG_008341.1:g.36796_36797delinsAG
NG_008341.2:g.36796_36797delinsAG

Transcript Alleles

HGVS	Amino-acid change
ENST00000248633.9:c.2760_2761delinsAG MANE Select	ENSP00000248633.4:p.Gln920=
ENST00000248633.8:c.2760_2761delinsAG	ENSP00000248633.4:p.Gln920=
ENST00000428214.5:c.2589_2590delinsAG	ENSP00000394413.1:p.Gln863=
ENST00000438045.5:c.1794_1795delinsAG	ENSP00000410438.1:p.Gln598=
ENST00000484913.5:n.2799_2800delinsAG
ENST00000496420.5:n.2652_2653delinsAG
NM_000466.2:c.2760_2761delinsAG	NP_000457.1:p.Gln920=
NM_001282677.1:c.2589_2590delinsAG	NP_001269606.1:p.Gln863=
NM_001282678.1:c.2136_2137delinsAG	NP_001269607.1:p.Gln712=
XM_005250433.3:c.1011_1012delinsAG	XP_005250490.1:p.Gln337=
XR_242246.3:n.2856_2857delinsAG
XM_017012319.2:c.1011_1012delinsAG	XP_016867808.1:p.Gln337=
XR_001744808.2:n.1787_1788delinsAG
XR_242246.5:n.2807_2808delinsAG
NM_000466.3:c.2760_2761delinsAG MANE Select	NP_000457.1:p.Gln920=
NM_001282677.2:c.2589_2590delinsAG	NP_001269606.1:p.Gln863=
NM_001282678.2:c.2136_2137delinsAG	NP_001269607.1:p.Gln712=