Canonical Allele Identifier: CA1725947792

Gene: PEX1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92517725_92517727delinsATG , CM000669.2:g.92517725_92517727delinsATG	GRCh38
NC_000007.13:g.92147039_92147041delinsATG , CM000669.1:g.92147039_92147041delinsATG	GRCh37
NC_000007.12:g.91984975_91984977delinsATG	NCBI36
NG_008341.1:g.15805_15807delinsCAT
NG_008341.2:g.15805_15807delinsCAT

Transcript Alleles

HGVS	Amino-acid change
ENST00000248633.9:c.788_790delinsCAT MANE Select	ENSP00000248633.4:p.Thr263=
ENST00000248633.8:c.788_790delinsCAT	ENSP00000248633.4:p.Thr263=
ENST00000428214.5:c.788_790delinsCAT	ENSP00000394413.1:p.Thr263=
ENST00000438045.5:c.274-3760_274-3758delinsCAT	ENSP00000410438.1:n.274-3760_274-3758delinsCAT
ENST00000484913.5:n.827_829delinsCAT
NM_000466.2:c.788_790delinsCAT	NP_000457.1:p.Thr263=
NM_001282677.1:c.788_790delinsCAT	NP_001269606.1:p.Thr263=
NM_001282678.1:c.164_166delinsCAT	NP_001269607.1:p.Thr55=
XR_242246.3:n.884_886delinsCAT
XR_242246.5:n.835_837delinsCAT
NM_000466.3:c.788_790delinsCAT MANE Select	NP_000457.1:p.Thr263=
NM_001282677.2:c.788_790delinsCAT	NP_001269606.1:p.Thr263=
NM_001282678.2:c.164_166delinsCAT	NP_001269607.1:p.Thr55=