Canonical Allele Identifier: CA1139660135

Gene: PEX1

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92501975_92501976delinsT , CM000669.2:g.92501975_92501976delinsT	GRCh38
NC_000007.13:g.92131289_92131290delinsT , CM000669.1:g.92131289_92131290delinsT	GRCh37
NC_000007.12:g.91969225_91969226delinsT	NCBI36
NG_008341.1:g.31556_31557delinsA
NG_008341.2:g.31556_31557delinsA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.2330_2331delinsA MANE Select	ENSP00000248633.4:p.Gly777GlufsTer?
ENST00000248633.8:c.2330_2331delinsA	ENSP00000248633.4:p.Gly777GlufsTer?
ENST00000428214.5:c.2159_2160delinsA	ENSP00000394413.1:p.Gly720GlufsTer?
ENST00000438045.5:c.1364_1365delinsA	ENSP00000410438.1:p.Gly455GlufsTer?
ENST00000484913.5:n.2369_2370delinsA
ENST00000496092.1:n.128_129delinsA
ENST00000496420.5:n.2006_2007delinsA
NM_000466.2:c.2330_2331delinsA	NP_000457.1:p.Gly777GlufsTer?
NM_001282677.1:c.2159_2160delinsA	NP_001269606.1:p.Gly720GlufsTer?
NM_001282678.1:c.1706_1707delinsA	NP_001269607.1:p.Gly569GlufsTer?
XM_005250433.3:c.581_582delinsA	XP_005250490.1:p.Gly194GlufsTer?
XR_242246.3:n.2426_2427delinsA
XM_017012319.2:c.581_582delinsA	XP_016867808.1:p.Gly194GlufsTer?
XR_001744808.2:n.1357_1358delinsA
XR_242246.5:n.2377_2378delinsA
NM_000466.3:c.2330_2331delinsA MANE Select	NP_000457.1:p.Gly777GlufsTer?
NM_001282677.2:c.2159_2160delinsA	NP_001269606.1:p.Gly720GlufsTer?
NM_001282678.2:c.1706_1707delinsA	NP_001269607.1:p.Gly569GlufsTer?