Canonical Allele Identifier: CA1725947721
Gene: PEX1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.92517684_92517696delinsCTGCATATTTTTG , CM000669.2:g.92517684_92517696delinsCTGCATATTTTTG GRCh38
NC_000007.13:g.92146998_92147010delinsCTGCATATTTTTG , CM000669.1:g.92146998_92147010delinsCTGCATATTTTTG GRCh37
NC_000007.12:g.91984934_91984946delinsCTGCATATTTTTG NCBI36
NG_008341.1:g.15836_15848delinsCAAAAATATGCAG
NG_008341.2:g.15836_15848delinsCAAAAATATGCAG

Transcript Alleles

HGVS Amino-acid change
ENST00000248633.9:c.819_831delinsCAAAAATATGCAG MANE Select ENSP00000248633.4:p.Phe273=
ENST00000248633.8:c.819_831delinsCAAAAATATGCAG ENSP00000248633.4:p.Phe273=
ENST00000428214.5:c.819_831delinsCAAAAATATGCAG ENSP00000394413.1:p.Phe273=
ENST00000438045.5:c.274-3729_274-3717delinsCAAAAATATGCAG ENSP00000410438.1:n.274-3729_274-3717deli...
ENST00000484913.5:n.858_870delinsCAAAAATATGCAG
NM_000466.2:c.819_831delinsCAAAAATATGCAG NP_000457.1:p.Phe273=
NM_001282677.1:c.819_831delinsCAAAAATATGCAG NP_001269606.1:p.Phe273=
NM_001282678.1:c.195_207delinsCAAAAATATGCAG NP_001269607.1:p.Phe65=
XR_242246.3:n.915_927delinsCAAAAATATGCAG
XR_242246.5:n.866_878delinsCAAAAATATGCAG
NM_000466.3:c.819_831delinsCAAAAATATGCAG MANE Select NP_000457.1:p.Phe273=
NM_001282677.2:c.819_831delinsCAAAAATATGCAG NP_001269606.1:p.Phe273=
NM_001282678.2:c.195_207delinsCAAAAATATGCAG NP_001269607.1:p.Phe65=