Canonical Allele Identifier: CA1725948006

Gene: PEX1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92517867_92517872delinsCTTGGT , CM000669.2:g.92517867_92517872delinsCTTGGT	GRCh38
NC_000007.13:g.92147181_92147186delinsCTTGGT , CM000669.1:g.92147181_92147186delinsCTTGGT	GRCh37
NC_000007.12:g.91985117_91985122delinsCTTGGT	NCBI36
NG_008341.1:g.15660_15665delinsACCAAG
NG_008341.2:g.15660_15665delinsACCAAG

Transcript Alleles

HGVS	Amino-acid change
ENST00000248633.9:c.643_648delinsACCAAG MANE Select	ENSP00000248633.4:p.Thr215=
ENST00000248633.8:c.643_648delinsACCAAG	ENSP00000248633.4:p.Thr215=
ENST00000428214.5:c.643_648delinsACCAAG	ENSP00000394413.1:p.Thr215=
ENST00000438045.5:c.274-3905_274-3900delinsACCAAG	ENSP00000410438.1:n.274-3905_274-3900deli...
ENST00000484913.5:n.682_687delinsACCAAG
NM_000466.2:c.643_648delinsACCAAG	NP_000457.1:p.Thr215=
NM_001282677.1:c.643_648delinsACCAAG	NP_001269606.1:p.Thr215=
NM_001282678.1:c.19_24delinsACCAAG	NP_001269607.1:p.Thr7=
XR_242246.3:n.739_744delinsACCAAG
XR_242246.5:n.690_695delinsACCAAG
NM_000466.3:c.643_648delinsACCAAG MANE Select	NP_000457.1:p.Thr215=
NM_001282677.2:c.643_648delinsACCAAG	NP_001269606.1:p.Thr215=
NM_001282678.2:c.19_24delinsACCAAG	NP_001269607.1:p.Thr7=