Canonical Allele Identifier: CA1725936863

Gene: PEX1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92502983_92502985delinsGAA , CM000669.2:g.92502983_92502985delinsGAA	GRCh38
NC_000007.13:g.92132297_92132299delinsGAA , CM000669.1:g.92132297_92132299delinsGAA	GRCh37
NC_000007.12:g.91970233_91970235delinsGAA	NCBI36
NG_008341.1:g.30547_30549delinsTTC
NG_008341.2:g.30547_30549delinsTTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.2226+56_2226+58delinsTTC MANE Select	ENSP00000248633.4:n.2226+56_2226+58delinsTTC
ENST00000248633.8:c.2226+56_2226+58delinsTTC	ENSP00000248633.4:n.2226+56_2226+58delinsTTC
ENST00000428214.5:c.2055+56_2055+58delinsTTC	ENSP00000394413.1:n.2055+56_2055+58delinsTTC
ENST00000438045.5:c.1260+56_1260+58delinsTTC	ENSP00000410438.1:n.1260+56_1260+58delinsTTC
ENST00000484913.5:n.2265+56_2265+58delinsTTC
ENST00000496092.1:n.24+56_24+58delinsTTC
ENST00000496420.5:n.1902+56_1902+58delinsTTC
NM_000466.2:c.2226+56_2226+58delinsTTC	NP_000457.1:n.2226+56_2226+58delinsTTC
NM_001282677.1:c.2055+56_2055+58delinsTTC	NP_001269606.1:n.2055+56_2055+58delinsTTC
NM_001282678.1:c.1602+56_1602+58delinsTTC	NP_001269607.1:n.1602+56_1602+58delinsTTC
XM_005250433.3:c.477+56_477+58delinsTTC	XP_005250490.1:n.477+56_477+58delinsTTC
XR_242246.3:n.2322+56_2322+58delinsTTC
XM_017012319.2:c.477+56_477+58delinsTTC	XP_016867808.1:n.477+56_477+58delinsTTC
XR_001744808.2:n.1253+56_1253+58delinsTTC
XR_242246.5:n.2273+56_2273+58delinsTTC
NM_000466.3:c.2226+56_2226+58delinsTTC MANE Select	NP_000457.1:n.2226+56_2226+58delinsTTC
NM_001282677.2:c.2055+56_2055+58delinsTTC	NP_001269606.1:n.2055+56_2055+58delinsTTC
NM_001282678.2:c.1602+56_1602+58delinsTTC	NP_001269607.1:n.1602+56_1602+58delinsTTC