Canonical Allele Identifier: CA1725947559

Gene: PEX1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92517602_92517604delinsCAG , CM000669.2:g.92517602_92517604delinsCAG	GRCh38
NC_000007.13:g.92146916_92146918delinsCAG , CM000669.1:g.92146916_92146918delinsCAG	GRCh37
NC_000007.12:g.91984852_91984854delinsCAG	NCBI36
NG_008341.1:g.15928_15930delinsCTG
NG_008341.2:g.15928_15930delinsCTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.911_913delinsCTG MANE Select	ENSP00000248633.4:p.Ser304=
ENST00000248633.8:c.911_913delinsCTG	ENSP00000248633.4:p.Ser304=
ENST00000428214.5:c.911_913delinsCTG	ENSP00000394413.1:p.Ser304=
ENST00000438045.5:c.274-3637_274-3635delinsCTG	ENSP00000410438.1:n.274-3637_274-3635delinsCTG
ENST00000484913.5:n.950_952delinsCTG
NM_000466.2:c.911_913delinsCTG	NP_000457.1:p.Ser304=
NM_001282677.1:c.911_913delinsCTG	NP_001269606.1:p.Ser304=
NM_001282678.1:c.287_289delinsCTG	NP_001269607.1:p.Ser96=
XR_242246.3:n.1007_1009delinsCTG
XM_017012319.2:c.-756_-754delinsCTG	XP_016867808.1:n.-756_-754delinsCTG
XR_001744808.2:n.21_23delinsCTG
XR_242246.5:n.958_960delinsCTG
NM_000466.3:c.911_913delinsCTG MANE Select	NP_000457.1:p.Ser304=
NM_001282677.2:c.911_913delinsCTG	NP_001269606.1:p.Ser304=
NM_001282678.2:c.287_289delinsCTG	NP_001269607.1:p.Ser96=