Canonical Allele Identifier: CA2683720494

Gene: PEX1

Linked Data

• gnomAD v4: 7-92511003-C-CT

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92511008dup , CM000669.2:g.92511008dup	GRCh38
NC_000007.13:g.92140322dup , CM000669.1:g.92140322dup	GRCh37
NC_000007.12:g.91978258dup	NCBI36
NG_008341.1:g.22528dup
NG_008341.2:g.22528dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.1527dup MANE Select	ENSP00000248633.4:p.Glu510ArgfsTer4
ENST00000248633.8:c.1527dup	ENSP00000248633.4:p.Glu510ArgfsTer4
ENST00000422866.1:c.428dup
ENST00000428214.5:c.1527dup	ENSP00000394413.1:p.Glu510ArgfsTer4
ENST00000438045.5:c.561dup	ENSP00000410438.1:p.Glu188ArgfsTer4
ENST00000476923.1:n.288dup
ENST00000484913.5:n.1566dup
NM_000466.2:c.1527dup	NP_000457.1:p.Glu510ArgfsTer4
NM_001282677.1:c.1527dup	NP_001269606.1:p.Glu510ArgfsTer4
NM_001282678.1:c.903dup	NP_001269607.1:p.Glu302ArgfsTer4
XM_005250433.3:c.-140dup	XP_005250490.1:n.-140dup
XR_242246.3:n.1623dup
XM_017012319.2:c.-140dup	XP_016867808.1:n.-140dup
XR_001744808.2:n.637dup
XR_242246.5:n.1574dup
NM_000466.3:c.1527dup MANE Select	NP_000457.1:p.Glu510ArgfsTer4
NM_001282677.2:c.1527dup	NP_001269606.1:p.Glu510ArgfsTer4
NM_001282678.2:c.903dup	NP_001269607.1:p.Glu302ArgfsTer4