Canonical Allele Identifier: CA1725935182

Gene: PEX1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92499783_92499786delinsTACA , CM000669.2:g.92499783_92499786delinsTACA	GRCh38
NC_000007.13:g.92129097_92129100delinsTACA , CM000669.1:g.92129097_92129100delinsTACA	GRCh37
NC_000007.12:g.91967033_91967036delinsTACA	NCBI36
NG_008341.1:g.33746_33749delinsTGTA
NG_008341.2:g.33746_33749delinsTGTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.2636_2639delinsTGTA MANE Select	ENSP00000248633.4:p.Leu879=
ENST00000248633.8:c.2636_2639delinsTGTA	ENSP00000248633.4:p.Leu879=
ENST00000428214.5:c.2465_2468delinsTGTA	ENSP00000394413.1:p.Leu822=
ENST00000438045.5:c.1670_1673delinsTGTA	ENSP00000410438.1:p.Leu557=
ENST00000484913.5:n.2675_2678delinsTGTA
ENST00000496420.5:n.2528_2531delinsTGTA
NM_000466.2:c.2636_2639delinsTGTA	NP_000457.1:p.Leu879=
NM_001282677.1:c.2465_2468delinsTGTA	NP_001269606.1:p.Leu822=
NM_001282678.1:c.2012_2015delinsTGTA	NP_001269607.1:p.Leu671=
XM_005250433.3:c.887_890delinsTGTA	XP_005250490.1:p.Leu296=
XR_242246.3:n.2732_2735delinsTGTA
XM_017012319.2:c.887_890delinsTGTA	XP_016867808.1:p.Leu296=
XR_001744808.2:n.1663_1666delinsTGTA
XR_242246.5:n.2683_2686delinsTGTA
NM_000466.3:c.2636_2639delinsTGTA MANE Select	NP_000457.1:p.Leu879=
NM_001282677.2:c.2465_2468delinsTGTA	NP_001269606.1:p.Leu822=
NM_001282678.2:c.2012_2015delinsTGTA	NP_001269607.1:p.Leu671=