Canonical Allele Identifier: CA1725947805

Gene: PEX1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92517729_92517732delinsCTCT , CM000669.2:g.92517729_92517732delinsCTCT	GRCh38
NC_000007.13:g.92147043_92147046delinsCTCT , CM000669.1:g.92147043_92147046delinsCTCT	GRCh37
NC_000007.12:g.91984979_91984982delinsCTCT	NCBI36
NG_008341.1:g.15800_15803delinsAGAG
NG_008341.2:g.15800_15803delinsAGAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.783_786delinsAGAG MANE Select	ENSP00000248633.4:p.Gln261=
ENST00000248633.8:c.783_786delinsAGAG	ENSP00000248633.4:p.Gln261=
ENST00000428214.5:c.783_786delinsAGAG	ENSP00000394413.1:p.Gln261=
ENST00000438045.5:c.274-3765_274-3762delinsAGAG	ENSP00000410438.1:n.274-3765_274-3762delinsAGAG
ENST00000484913.5:n.822_825delinsAGAG
NM_000466.2:c.783_786delinsAGAG	NP_000457.1:p.Gln261=
NM_001282677.1:c.783_786delinsAGAG	NP_001269606.1:p.Gln261=
NM_001282678.1:c.159_162delinsAGAG	NP_001269607.1:p.Gln53=
XR_242246.3:n.879_882delinsAGAG
XR_242246.5:n.830_833delinsAGAG
NM_000466.3:c.783_786delinsAGAG MANE Select	NP_000457.1:p.Gln261=
NM_001282677.2:c.783_786delinsAGAG	NP_001269606.1:p.Gln261=
NM_001282678.2:c.159_162delinsAGAG	NP_001269607.1:p.Gln53=