Canonical Allele Identifier: CA2695207999

Gene: PEX1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92517831_92517832insAAAC , CM000669.2:g.92517831_92517832insAAAC	GRCh38
NC_000007.13:g.92147145_92147146insAAAC , CM000669.1:g.92147145_92147146insAAAC	GRCh37
NC_000007.12:g.91985081_91985082insAAAC	NCBI36
NG_008341.1:g.15700_15701insGTTT
NG_008341.2:g.15700_15701insGTTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.683_684insGTTT MANE Select	ENSP00000248633.4:p.Asn229PhefsTer2
ENST00000248633.8:c.683_684insGTTT	ENSP00000248633.4:p.Asn229PhefsTer2
ENST00000428214.5:c.683_684insGTTT	ENSP00000394413.1:p.Asn229PhefsTer2
ENST00000438045.5:c.274-3865_274-3864insGTTT	ENSP00000410438.1:n.274-3865_274-3864insGTTT
ENST00000484913.5:n.722_723insGTTT
NM_000466.2:c.683_684insGTTT	NP_000457.1:p.Asn229PhefsTer2
NM_001282677.1:c.683_684insGTTT	NP_001269606.1:p.Asn229PhefsTer2
NM_001282678.1:c.59_60insGTTT	NP_001269607.1:p.Asn21PhefsTer2
XR_242246.3:n.779_780insGTTT
XR_242246.5:n.730_731insGTTT
NM_000466.3:c.683_684insGTTT MANE Select	NP_000457.1:p.Asn229PhefsTer2
NM_001282677.2:c.683_684insGTTT	NP_001269606.1:p.Asn229PhefsTer2
NM_001282678.2:c.59_60insGTTT	NP_001269607.1:p.Asn21PhefsTer2