Canonical Allele Identifier: CA2695207993

Gene: PEX1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92510946del , CM000669.2:g.92510946del	GRCh38
NC_000007.13:g.92140260del , CM000669.1:g.92140260del	GRCh37
NC_000007.12:g.91978196del	NCBI36
NG_008341.1:g.22586del
NG_008341.2:g.22586del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.1585del MANE Select	ENSP00000248633.4:p.Gln529LysfsTer4
ENST00000248633.8:c.1585del	ENSP00000248633.4:p.Gln529LysfsTer4
ENST00000422866.1:c.486del
ENST00000428214.5:c.1585del	ENSP00000394413.1:p.Gln529LysfsTer4
ENST00000438045.5:c.619del	ENSP00000410438.1:p.Gln207LysfsTer4
ENST00000476923.1:n.346del
ENST00000484913.5:n.1624del
NM_000466.2:c.1585del	NP_000457.1:p.Gln529LysfsTer4
NM_001282677.1:c.1585del	NP_001269606.1:p.Gln529LysfsTer4
NM_001282678.1:c.961del	NP_001269607.1:p.Gln321LysfsTer4
XM_005250433.3:c.-82del	XP_005250490.1:n.-82del
XR_242246.3:n.1681del
XM_017012319.2:c.-82del	XP_016867808.1:n.-82del
XR_001744808.2:n.695del
XR_242246.5:n.1632del
NM_000466.3:c.1585del MANE Select	NP_000457.1:p.Gln529LysfsTer4
NM_001282677.2:c.1585del	NP_001269606.1:p.Gln529LysfsTer4
NM_001282678.2:c.961del	NP_001269607.1:p.Gln321LysfsTer4