Canonical Allele Identifier: CA1139659843

Gene: PEX1

Linked Data

• ClinVar Variation Id: 965312
• ClinVar RCV Id: RCV001239730
• dbSNP Id: rs1792860966

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92517680_92517696delinsAGAC , CM000669.2:g.92517680_92517696delinsAGAC	GRCh38
NC_000007.13:g.92146994_92147010delinsAGAC , CM000669.1:g.92146994_92147010delinsAGAC	GRCh37
NC_000007.12:g.91984930_91984946delinsAGAC	NCBI36
NG_008341.1:g.15836_15852delinsGTCT
NG_008341.2:g.15836_15852delinsGTCT

Transcript Alleles

HGVS	Amino-acid change
ENST00000248633.9:c.819_835delinsGTCT MANE Select	ENSP00000248633.4:p.Phe273LeufsTer7
ENST00000248633.8:c.819_835delinsGTCT	ENSP00000248633.4:p.Phe273LeufsTer7
ENST00000428214.5:c.819_835delinsGTCT	ENSP00000394413.1:p.Phe273LeufsTer7
ENST00000438045.5:c.274-3729_274-3713delinsGTCT	ENSP00000410438.1:n.274-3729_274-3713deli...
ENST00000484913.5:n.858_874delinsGTCT
NM_000466.2:c.819_835delinsGTCT	NP_000457.1:p.Phe273LeufsTer7
NM_001282677.1:c.819_835delinsGTCT	NP_001269606.1:p.Phe273LeufsTer7
NM_001282678.1:c.195_211delinsGTCT	NP_001269607.1:p.Phe65LeufsTer7
XR_242246.3:n.915_931delinsGTCT
XR_242246.5:n.866_882delinsGTCT
NM_000466.3:c.819_835delinsGTCT MANE Select	NP_000457.1:p.Phe273LeufsTer7
NM_001282677.2:c.819_835delinsGTCT	NP_001269606.1:p.Phe273LeufsTer7
NM_001282678.2:c.195_211delinsGTCT	NP_001269607.1:p.Phe65LeufsTer7