Canonical Allele Identifier: CA2683719165

Gene: PEX1

Linked Data

• gnomAD v4: 7-92506340-CT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92506342del , CM000669.2:g.92506342del	GRCh38
NC_000007.13:g.92135656del , CM000669.1:g.92135656del	GRCh37
NC_000007.12:g.91973592del	NCBI36
NG_008341.1:g.27191del
NG_008341.2:g.27191del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.1807del MANE Select	ENSP00000248633.4:p.Ser603ValfsTer6
ENST00000248633.8:c.1807del	ENSP00000248633.4:p.Ser603ValfsTer6
ENST00000422866.1:c.625del
ENST00000428214.5:c.1807del	ENSP00000394413.1:p.Ser603ValfsTer6
ENST00000438045.5:c.841del	ENSP00000410438.1:p.Ser281ValfsTer6
ENST00000484913.5:n.1846del
ENST00000496420.5:n.1483del
NM_000466.2:c.1807del	NP_000457.1:p.Ser603ValfsTer6
NM_001282677.1:c.1807del	NP_001269606.1:p.Ser603ValfsTer6
NM_001282678.1:c.1183del	NP_001269607.1:p.Ser395ValfsTer6
XM_005250433.3:c.58del	XP_005250490.1:p.Ser20ValfsTer6
XR_242246.3:n.1903del
XM_017012319.2:c.58del	XP_016867808.1:p.Ser20ValfsTer6
XR_001744808.2:n.834del
XR_242246.5:n.1854del
NM_000466.3:c.1807del MANE Select	NP_000457.1:p.Ser603ValfsTer6
NM_001282677.2:c.1807del	NP_001269606.1:p.Ser603ValfsTer6
NM_001282678.2:c.1183del	NP_001269607.1:p.Ser395ValfsTer6