Canonical Allele Identifier: CA2776946240

Gene: PEX1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92502030del , CM000669.2:g.92502030del	GRCh38
NC_000007.13:g.92131344del , CM000669.1:g.92131344del	GRCh37
NC_000007.12:g.91969280del	NCBI36
NG_008341.1:g.31502del
NG_008341.2:g.31502del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.2276del MANE Select	ENSP00000248633.4:p.Cys759LeufsTer3
ENST00000248633.8:c.2276del	ENSP00000248633.4:p.Cys759LeufsTer3
ENST00000428214.5:c.2105del	ENSP00000394413.1:p.Cys702LeufsTer3
ENST00000438045.5:c.1310del	ENSP00000410438.1:p.Cys437LeufsTer3
ENST00000484913.5:n.2315del
ENST00000496092.1:n.74del
ENST00000496420.5:n.1952del
NM_000466.2:c.2276del	NP_000457.1:p.Cys759LeufsTer3
NM_001282677.1:c.2105del	NP_001269606.1:p.Cys702LeufsTer3
NM_001282678.1:c.1652del	NP_001269607.1:p.Cys551LeufsTer3
XM_005250433.3:c.527del	XP_005250490.1:p.Cys176LeufsTer3
XR_242246.3:n.2372del
XM_017012319.2:c.527del	XP_016867808.1:p.Cys176LeufsTer3
XR_001744808.2:n.1303del
XR_242246.5:n.2323del
NM_000466.3:c.2276del MANE Select	NP_000457.1:p.Cys759LeufsTer3
NM_001282677.2:c.2105del	NP_001269606.1:p.Cys702LeufsTer3
NM_001282678.2:c.1652del	NP_001269607.1:p.Cys551LeufsTer3