Canonical Allele Identifier: CA1725936112

Gene: PEX1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92501974_92501976delinsCGC , CM000669.2:g.92501974_92501976delinsCGC	GRCh38
NC_000007.13:g.92131288_92131290delinsCGC , CM000669.1:g.92131288_92131290delinsCGC	GRCh37
NC_000007.12:g.91969224_91969226delinsCGC	NCBI36
NG_008341.1:g.31556_31558delinsGCG
NG_008341.2:g.31556_31558delinsGCG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.2330_2332delinsGCG MANE Select	ENSP00000248633.4:p.Gly777=
ENST00000248633.8:c.2330_2332delinsGCG	ENSP00000248633.4:p.Gly777=
ENST00000428214.5:c.2159_2161delinsGCG	ENSP00000394413.1:p.Gly720=
ENST00000438045.5:c.1364_1366delinsGCG	ENSP00000410438.1:p.Gly455=
ENST00000484913.5:n.2369_2371delinsGCG
ENST00000496092.1:n.128_130delinsGCG
ENST00000496420.5:n.2006_2008delinsGCG
NM_000466.2:c.2330_2332delinsGCG	NP_000457.1:p.Gly777=
NM_001282677.1:c.2159_2161delinsGCG	NP_001269606.1:p.Gly720=
NM_001282678.1:c.1706_1708delinsGCG	NP_001269607.1:p.Gly569=
XM_005250433.3:c.581_583delinsGCG	XP_005250490.1:p.Gly194=
XR_242246.3:n.2426_2428delinsGCG
XM_017012319.2:c.581_583delinsGCG	XP_016867808.1:p.Gly194=
XR_001744808.2:n.1357_1359delinsGCG
XR_242246.5:n.2377_2379delinsGCG
NM_000466.3:c.2330_2332delinsGCG MANE Select	NP_000457.1:p.Gly777=
NM_001282677.2:c.2159_2161delinsGCG	NP_001269606.1:p.Gly720=
NM_001282678.2:c.1706_1708delinsGCG	NP_001269607.1:p.Gly569=