Canonical Allele Identifier: CA1725941215

Gene: PEX1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92506314_92506315insAA , CM000669.2:g.92506314_92506315insAA	GRCh38
NC_000007.13:g.92135628_92135629insAA , CM000669.1:g.92135628_92135629insAA	GRCh37
NC_000007.12:g.91973564_91973565insAA	NCBI36
NG_008341.1:g.27217_27218insTT
NG_008341.2:g.27217_27218insTT

Transcript Alleles

HGVS	Amino-acid change
ENST00000248633.9:c.1833_1834insTT MANE Select	ENSP00000248633.4:p.Ile612LeufsTer?
ENST00000248633.8:c.1833_1834insTT	ENSP00000248633.4:p.Ile612LeufsTer?
ENST00000422866.1:c.651_652insTT
ENST00000428214.5:c.1833_1834insTT	ENSP00000394413.1:p.Ile612LeufsTer25
ENST00000438045.5:c.867_868insTT	ENSP00000410438.1:p.Ile290LeufsTer?
ENST00000484913.5:n.1872_1873insTT
ENST00000496420.5:n.1509_1510insTT
NM_000466.2:c.1833_1834insTT	NP_000457.1:p.Ile612LeufsTer?
NM_001282677.1:c.1833_1834insTT	NP_001269606.1:p.Ile612LeufsTer25
NM_001282678.1:c.1209_1210insTT	NP_001269607.1:p.Ile404LeufsTer?
XM_005250433.3:c.84_85insTT	XP_005250490.1:p.Ile29LeufsTer?
XR_242246.3:n.1929_1930insTT
XM_017012319.2:c.84_85insTT	XP_016867808.1:p.Ile29LeufsTer?
XR_001744808.2:n.860_861insTT
XR_242246.5:n.1880_1881insTT
NM_000466.3:c.1833_1834insTT MANE Select	NP_000457.1:p.Ile612LeufsTer?
NM_001282677.2:c.1833_1834insTT	NP_001269606.1:p.Ile612LeufsTer25
NM_001282678.2:c.1209_1210insTT	NP_001269607.1:p.Ile404LeufsTer?