Canonical Allele Identifier: CA1725936082

Gene: PEX1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92501913_92501915delinsCGA , CM000669.2:g.92501913_92501915delinsCGA	GRCh38
NC_000007.13:g.92131227_92131229delinsCGA , CM000669.1:g.92131227_92131229delinsCGA	GRCh37
NC_000007.12:g.91969163_91969165delinsCGA	NCBI36
NG_008341.1:g.31617_31619delinsTCG
NG_008341.2:g.31617_31619delinsTCG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.2391_2393delinsTCG MANE Select	ENSP00000248633.4:p.Ser797=
ENST00000248633.8:c.2391_2393delinsTCG	ENSP00000248633.4:p.Ser797=
ENST00000428214.5:c.2220_2222delinsTCG	ENSP00000394413.1:p.Ser740=
ENST00000438045.5:c.1425_1427delinsTCG	ENSP00000410438.1:p.Ser475=
ENST00000484913.5:n.2430_2432delinsTCG
ENST00000496092.1:n.189_191delinsTCG
ENST00000496420.5:n.2067_2069delinsTCG
NM_000466.2:c.2391_2393delinsTCG	NP_000457.1:p.Ser797=
NM_001282677.1:c.2220_2222delinsTCG	NP_001269606.1:p.Ser740=
NM_001282678.1:c.1767_1769delinsTCG	NP_001269607.1:p.Ser589=
XM_005250433.3:c.642_644delinsTCG	XP_005250490.1:p.Ser214=
XR_242246.3:n.2487_2489delinsTCG
XM_017012319.2:c.642_644delinsTCG	XP_016867808.1:p.Ser214=
XR_001744808.2:n.1418_1420delinsTCG
XR_242246.5:n.2438_2440delinsTCG
NM_000466.3:c.2391_2393delinsTCG MANE Select	NP_000457.1:p.Ser797=
NM_001282677.2:c.2220_2222delinsTCG	NP_001269606.1:p.Ser740=
NM_001282678.2:c.1767_1769delinsTCG	NP_001269607.1:p.Ser589=