Canonical Allele Identifier: CA1139659846

Gene: PEX1

Linked Data

• ClinVar Variation Id: 981111
• ClinVar RCV Id: RCV001260427
• dbSNP Id: rs1793076195

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92522125_92522126insA , CM000669.2:g.92522125_92522126insA	GRCh38
NC_000007.13:g.92151439_92151440insA , CM000669.1:g.92151439_92151440insA	GRCh37
NC_000007.12:g.91989375_91989376insA	NCBI36
NG_008341.1:g.11406_11407insT
NG_008341.2:g.11406_11407insT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.249_250insT MANE Select	ENSP00000248633.4:p.Leu84SerfsTer24
ENST00000248633.8:c.249_250insT	ENSP00000248633.4:p.Leu84SerfsTer24
ENST00000428214.5:c.249_250insT	ENSP00000394413.1:p.Leu84SerfsTer24
ENST00000438045.5:c.249_250insT	ENSP00000410438.1:p.Leu84SerfsTer12
ENST00000484913.5:n.253_254insT
NM_000466.2:c.249_250insT	NP_000457.1:p.Leu84SerfsTer24
NM_001282677.1:c.249_250insT	NP_001269606.1:p.Leu84SerfsTer24
NM_001282678.1:c.-411_-410insT	NP_001269607.1:n.-411_-410insT
XR_242246.3:n.345_346insT
XR_242246.5:n.296_297insT
NM_000466.3:c.249_250insT MANE Select	NP_000457.1:p.Leu84SerfsTer24
NM_001282677.2:c.249_250insT	NP_001269606.1:p.Leu84SerfsTer24
NM_001282678.2:c.-411_-410insT	NP_001269607.1:n.-411_-410insT