Canonical Allele Identifier: CA2697557403

Gene: PEX1

Linked Data

• ClinVar Variation Id: 2714749
• ClinVar RCV Id: RCV003595189

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92517692_92517695del , CM000669.2:g.92517692_92517695del	GRCh38
NC_000007.13:g.92147006_92147009del , CM000669.1:g.92147006_92147009del	GRCh37
NC_000007.12:g.91984942_91984945del	NCBI36
NG_008341.1:g.15838_15841del
NG_008341.2:g.15838_15841del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.821_824del MANE Select	ENSP00000248633.4:p.Lys274IlefsTer9
ENST00000248633.8:c.821_824del	ENSP00000248633.4:p.Lys274IlefsTer9
ENST00000428214.5:c.821_824del	ENSP00000394413.1:p.Lys274IlefsTer9
ENST00000438045.5:c.274-3727_274-3724del	ENSP00000410438.1:n.274-3727_274-3724del
ENST00000484913.5:n.860_863del
NM_000466.2:c.821_824del	NP_000457.1:p.Lys274IlefsTer9
NM_001282677.1:c.821_824del	NP_001269606.1:p.Lys274IlefsTer9
NM_001282678.1:c.197_200del	NP_001269607.1:p.Lys66IlefsTer9
XR_242246.3:n.917_920del
XR_242246.5:n.868_871del
NM_000466.3:c.821_824del MANE Select	NP_000457.1:p.Lys274IlefsTer9
NM_001282677.2:c.821_824del	NP_001269606.1:p.Lys274IlefsTer9
NM_001282678.2:c.197_200del	NP_001269607.1:p.Lys66IlefsTer9