Canonical Allele Identifier: CA1725947329

Gene: PEX1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92517439_92517441delinsTTC , CM000669.2:g.92517439_92517441delinsTTC	GRCh38
NC_000007.13:g.92146753_92146755delinsTTC , CM000669.1:g.92146753_92146755delinsTTC	GRCh37
NC_000007.12:g.91984689_91984691delinsTTC	NCBI36
NG_008341.1:g.16091_16093delinsGAA
NG_008341.2:g.16091_16093delinsGAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.1074_1076delinsGAA MANE Select	ENSP00000248633.4:p.Glu358=
ENST00000248633.8:c.1074_1076delinsGAA	ENSP00000248633.4:p.Glu358=
ENST00000428214.5:c.1074_1076delinsGAA	ENSP00000394413.1:p.Glu358=
ENST00000438045.5:c.274-3474_274-3472delinsGAA	ENSP00000410438.1:n.274-3474_274-3472delinsGAA
ENST00000484913.5:n.1113_1115delinsGAA
NM_000466.2:c.1074_1076delinsGAA	NP_000457.1:p.Glu358=
NM_001282677.1:c.1074_1076delinsGAA	NP_001269606.1:p.Glu358=
NM_001282678.1:c.450_452delinsGAA	NP_001269607.1:p.Glu150=
XR_242246.3:n.1170_1172delinsGAA
XM_017012319.2:c.-593_-591delinsGAA	XP_016867808.1:n.-593_-591delinsGAA
XR_001744808.2:n.184_186delinsGAA
XR_242246.5:n.1121_1123delinsGAA
NM_000466.3:c.1074_1076delinsGAA MANE Select	NP_000457.1:p.Glu358=
NM_001282677.2:c.1074_1076delinsGAA	NP_001269606.1:p.Glu358=
NM_001282678.2:c.450_452delinsGAA	NP_001269607.1:p.Glu150=