Canonical Allele Identifier: CA2578938008

Gene: PEX1

Linked Data

• gnomAD v4: 7-92504896-CT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92504901del , CM000669.2:g.92504901del	GRCh38
NC_000007.13:g.92134215del , CM000669.1:g.92134215del	GRCh37
NC_000007.12:g.91972151del	NCBI36
NG_008341.1:g.28635del
NG_008341.2:g.28635del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.1906del MANE Select	ENSP00000248633.4:p.Arg636GlyfsTer9
ENST00000248633.8:c.1906del	ENSP00000248633.4:p.Arg636GlyfsTer9
ENST00000422866.1:c.724del
ENST00000428214.5:c.1900+1351del	ENSP00000394413.1:n.1900+1351del
ENST00000438045.5:c.940del	ENSP00000410438.1:p.Arg314GlyfsTer9
ENST00000484913.5:n.1945del
ENST00000496420.5:n.1582del
NM_000466.2:c.1906del	NP_000457.1:p.Arg636GlyfsTer9
NM_001282677.1:c.1900+1351del	NP_001269606.1:n.1900+1351del
NM_001282678.1:c.1282del	NP_001269607.1:p.Arg428GlyfsTer9
XM_005250433.3:c.157del	XP_005250490.1:p.Arg53GlyfsTer9
XR_242246.3:n.2002del
XM_017012319.2:c.157del	XP_016867808.1:p.Arg53GlyfsTer9
XR_001744808.2:n.933del
XR_242246.5:n.1953del
NM_000466.3:c.1906del MANE Select	NP_000457.1:p.Arg636GlyfsTer9
NM_001282677.2:c.1900+1351del	NP_001269606.1:n.1900+1351del
NM_001282678.2:c.1282del	NP_001269607.1:p.Arg428GlyfsTer9