Canonical Allele Identifier: CA2580077859

Gene: PEX1

Linked Data

• ClinVar Variation Id: 1725832
• ClinVar RCV Id: RCV002309516

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92522200_92522201del , CM000669.2:g.92522200_92522201del	GRCh38
NC_000007.13:g.92151514_92151515del , CM000669.1:g.92151514_92151515del	GRCh37
NC_000007.12:g.91989450_91989451del	NCBI36
NG_008341.1:g.11332_11333del
NG_008341.2:g.11332_11333del

Transcript Alleles

HGVS	Amino-acid change
ENST00000248633.9:c.175_176del MANE Select	ENSP00000248633.4:p.Ser59LeufsTer8
ENST00000248633.8:c.175_176del	ENSP00000248633.4:p.Ser59LeufsTer8
ENST00000428214.5:c.175_176del	ENSP00000394413.1:p.Ser59LeufsTer8
ENST00000438045.5:c.175_176del	ENSP00000410438.1:p.Ser59LeufsTer8
ENST00000484913.5:n.179_180del
NM_000466.2:c.175_176del	NP_000457.1:p.Ser59LeufsTer8
NM_001282677.1:c.175_176del	NP_001269606.1:p.Ser59LeufsTer8
NM_001282678.1:c.-485_-484del	NP_001269607.1:n.-485_-484del
XR_242246.3:n.271_272del
XR_242246.5:n.222_223del
NM_000466.3:c.175_176del MANE Select	NP_000457.1:p.Ser59LeufsTer8
NM_001282677.2:c.175_176del	NP_001269606.1:p.Ser59LeufsTer8
NM_001282678.2:c.-485_-484del	NP_001269607.1:n.-485_-484del