Canonical Allele Identifier: CA2580077841

Gene: PEX1

Linked Data

• ClinVar Variation Id: 1726334
• ClinVar RCV Id: RCV002307305

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92517757_92517758delinsT , CM000669.2:g.92517757_92517758delinsT	GRCh38
NC_000007.13:g.92147071_92147072delinsT , CM000669.1:g.92147071_92147072delinsT	GRCh37
NC_000007.12:g.91985007_91985008delinsT	NCBI36
NG_008341.1:g.15774_15775delinsA
NG_008341.2:g.15774_15775delinsA

Transcript Alleles

HGVS	Amino-acid change
ENST00000248633.9:c.757_758delinsA MANE Select	ENSP00000248633.4:p.Phe253IlefsTer15
ENST00000248633.8:c.757_758delinsA	ENSP00000248633.4:p.Phe253IlefsTer15
ENST00000428214.5:c.757_758delinsA	ENSP00000394413.1:p.Phe253IlefsTer15
ENST00000438045.5:c.274-3791_274-3790delinsA	ENSP00000410438.1:n.274-3791_274-3790delinsA
ENST00000484913.5:n.796_797delinsA
NM_000466.2:c.757_758delinsA	NP_000457.1:p.Phe253IlefsTer15
NM_001282677.1:c.757_758delinsA	NP_001269606.1:p.Phe253IlefsTer15
NM_001282678.1:c.133_134delinsA	NP_001269607.1:p.Phe45IlefsTer15
XR_242246.3:n.853_854delinsA
XR_242246.5:n.804_805delinsA
NM_000466.3:c.757_758delinsA MANE Select	NP_000457.1:p.Phe253IlefsTer15
NM_001282677.2:c.757_758delinsA	NP_001269606.1:p.Phe253IlefsTer15
NM_001282678.2:c.133_134delinsA	NP_001269607.1:p.Phe45IlefsTer15