Canonical Allele Identifier: CA1725938842

Gene: PEX1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92504784_92504793delinsGACAGCAGGC , CM000669.2:g.92504784_92504793delinsGACAGCAGGC	GRCh38
NC_000007.13:g.92134098_92134107delinsGACAGCAGGC , CM000669.1:g.92134098_92134107delinsGACAGCAGGC	GRCh37
NC_000007.12:g.91972034_91972043delinsGACAGCAGGC	NCBI36
NG_008341.1:g.28739_28748delinsGCCTGCTGTC
NG_008341.2:g.28739_28748delinsGCCTGCTGTC

Transcript Alleles

HGVS	Amino-acid change
ENST00000248633.9:c.2010_2019delinsGCCTGCTGTC MANE Select	ENSP00000248633.4:p.Leu670=
ENST00000248633.8:c.2010_2019delinsGCCTGCTGTC	ENSP00000248633.4:p.Leu670=
ENST00000428214.5:c.1900+1455_1900+1464delinsGCCTGCTGTC	ENSP00000394413.1:n.1900+1455_1900+1464de...
ENST00000438045.5:c.1044_1053delinsGCCTGCTGTC	ENSP00000410438.1:p.Leu348=
ENST00000484913.5:n.2049_2058delinsGCCTGCTGTC
ENST00000496420.5:n.1686_1695delinsGCCTGCTGTC
NM_000466.2:c.2010_2019delinsGCCTGCTGTC	NP_000457.1:p.Leu670=
NM_001282677.1:c.1900+1455_1900+1464delinsGCCTGCTGTC	NP_001269606.1:n.1900+1455_1900+1464delin...
NM_001282678.1:c.1386_1395delinsGCCTGCTGTC	NP_001269607.1:p.Leu462=
XM_005250433.3:c.261_270delinsGCCTGCTGTC	XP_005250490.1:p.Leu87=
XR_242246.3:n.2106_2115delinsGCCTGCTGTC
XM_017012319.2:c.261_270delinsGCCTGCTGTC	XP_016867808.1:p.Leu87=
XR_001744808.2:n.1037_1046delinsGCCTGCTGTC
XR_242246.5:n.2057_2066delinsGCCTGCTGTC
NM_000466.3:c.2010_2019delinsGCCTGCTGTC MANE Select	NP_000457.1:p.Leu670=
NM_001282677.2:c.1900+1455_1900+1464delinsGCCTGCTGTC	NP_001269606.1:n.1900+1455_1900+1464delin...
NM_001282678.2:c.1386_1395delinsGCCTGCTGTC	NP_001269607.1:p.Leu462=