Canonical Allele Identifier: CA1139659845

Gene: PEX1

Linked Data

• ClinVar Variation Id: 954386
• ClinVar RCV Id: RCV001226834
• dbSNP Id: rs1793076317

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92522130del , CM000669.2:g.92522130del	GRCh38
NC_000007.13:g.92151444del , CM000669.1:g.92151444del	GRCh37
NC_000007.12:g.91989380del	NCBI36
NG_008341.1:g.11406del
NG_008341.2:g.11406del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.249del MANE Select	ENSP00000248633.4:p.Lys83AsnfsTer?
ENST00000248633.8:c.249del	ENSP00000248633.4:p.Lys83AsnfsTer?
ENST00000428214.5:c.249del	ENSP00000394413.1:p.Lys83AsnfsTer?
ENST00000438045.5:c.249del	ENSP00000410438.1:p.Lys83AsnfsTer14
ENST00000484913.5:n.253del
NM_000466.2:c.249del	NP_000457.1:p.Lys83AsnfsTer?
NM_001282677.1:c.249del	NP_001269606.1:p.Lys83AsnfsTer?
NM_001282678.1:c.-411del	NP_001269607.1:n.-411del
XR_242246.3:n.345del
XR_242246.5:n.296del
NM_000466.3:c.249del MANE Select	NP_000457.1:p.Lys83AsnfsTer?
NM_001282677.2:c.249del	NP_001269606.1:p.Lys83AsnfsTer?
NM_001282678.2:c.-411del	NP_001269607.1:n.-411del