Canonical Allele Identifier: CA1725947699

Gene: PEX1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92517679_92517696delinsTTTGACTGCATATTTTTG , CM000669.2:g.92517679_92517696delinsTTTGACTGCATATTTTTG	GRCh38
NC_000007.13:g.92146993_92147010delinsTTTGACTGCATATTTTTG , CM000669.1:g.92146993_92147010delinsTTTGACTGCATATTTTTG	GRCh37
NC_000007.12:g.91984929_91984946delinsTTTGACTGCATATTTTTG	NCBI36
NG_008341.1:g.15836_15853delinsCAAAAATATGCAGTCAAA
NG_008341.2:g.15836_15853delinsCAAAAATATGCAGTCAAA

Transcript Alleles

HGVS	Amino-acid change
ENST00000248633.9:c.819_836delinsCAAAAATATGCAGTCAAA MANE Select	ENSP00000248633.4:p.Phe273=
ENST00000248633.8:c.819_836delinsCAAAAATATGCAGTCAAA	ENSP00000248633.4:p.Phe273=
ENST00000428214.5:c.819_836delinsCAAAAATATGCAGTCAAA	ENSP00000394413.1:p.Phe273=
ENST00000438045.5:c.274-3729_274-3712delinsCAAAAATATGCAGTCAAA	ENSP00000410438.1:n.274-3729_274-3712deli...
ENST00000484913.5:n.858_875delinsCAAAAATATGCAGTCAAA
NM_000466.2:c.819_836delinsCAAAAATATGCAGTCAAA	NP_000457.1:p.Phe273=
NM_001282677.1:c.819_836delinsCAAAAATATGCAGTCAAA	NP_001269606.1:p.Phe273=
NM_001282678.1:c.195_212delinsCAAAAATATGCAGTCAAA	NP_001269607.1:p.Phe65=
XR_242246.3:n.915_932delinsCAAAAATATGCAGTCAAA
XR_242246.5:n.866_883delinsCAAAAATATGCAGTCAAA
NM_000466.3:c.819_836delinsCAAAAATATGCAGTCAAA MANE Select	NP_000457.1:p.Phe273=
NM_001282677.2:c.819_836delinsCAAAAATATGCAGTCAAA	NP_001269606.1:p.Phe273=
NM_001282678.2:c.195_212delinsCAAAAATATGCAGTCAAA	NP_001269607.1:p.Phe65=