Canonical Allele Identifier: CA1725947809

Gene: PEX1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92517731_92517733delinsCTT , CM000669.2:g.92517731_92517733delinsCTT	GRCh38
NC_000007.13:g.92147045_92147047delinsCTT , CM000669.1:g.92147045_92147047delinsCTT	GRCh37
NC_000007.12:g.91984981_91984983delinsCTT	NCBI36
NG_008341.1:g.15799_15801delinsAAG
NG_008341.2:g.15799_15801delinsAAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.782_784delinsAAG MANE Select	ENSP00000248633.4:p.Gln261=
ENST00000248633.8:c.782_784delinsAAG	ENSP00000248633.4:p.Gln261=
ENST00000428214.5:c.782_784delinsAAG	ENSP00000394413.1:p.Gln261=
ENST00000438045.5:c.274-3766_274-3764delinsAAG	ENSP00000410438.1:n.274-3766_274-3764delinsAAG
ENST00000484913.5:n.821_823delinsAAG
NM_000466.2:c.782_784delinsAAG	NP_000457.1:p.Gln261=
NM_001282677.1:c.782_784delinsAAG	NP_001269606.1:p.Gln261=
NM_001282678.1:c.158_160delinsAAG	NP_001269607.1:p.Gln53=
XR_242246.3:n.878_880delinsAAG
XR_242246.5:n.829_831delinsAAG
NM_000466.3:c.782_784delinsAAG MANE Select	NP_000457.1:p.Gln261=
NM_001282677.2:c.782_784delinsAAG	NP_001269606.1:p.Gln261=
NM_001282678.2:c.158_160delinsAAG	NP_001269607.1:p.Gln53=