Canonical Allele Identifier: CA2536830658

Gene: PEX1

Linked Data

• ClinVar Variation Id: 1446920
• ClinVar RCV Id: RCV001996664
• dbSNP Id: rs2116245705

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92517731_92517732del , CM000669.2:g.92517731_92517732del	GRCh38
NC_000007.13:g.92147045_92147046del , CM000669.1:g.92147045_92147046del	GRCh37
NC_000007.12:g.91984981_91984982del	NCBI36
NG_008341.1:g.15803_15804del
NG_008341.2:g.15803_15804del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.786_787del MANE Select	ENSP00000248633.4:p.Glu262AspfsTer7
ENST00000248633.8:c.786_787del	ENSP00000248633.4:p.Glu262AspfsTer7
ENST00000428214.5:c.786_787del	ENSP00000394413.1:p.Glu262AspfsTer7
ENST00000438045.5:c.274-3762_274-3761del	ENSP00000410438.1:n.274-3762_274-3761del
ENST00000484913.5:n.825_826del
NM_000466.2:c.786_787del	NP_000457.1:p.Glu262AspfsTer7
NM_001282677.1:c.786_787del	NP_001269606.1:p.Glu262AspfsTer7
NM_001282678.1:c.162_163del	NP_001269607.1:p.Glu54AspfsTer7
XR_242246.3:n.882_883del
XR_242246.5:n.833_834del
NM_000466.3:c.786_787del MANE Select	NP_000457.1:p.Glu262AspfsTer7
NM_001282677.2:c.786_787del	NP_001269606.1:p.Glu262AspfsTer7
NM_001282678.2:c.162_163del	NP_001269607.1:p.Glu54AspfsTer7