Canonical Allele Identifier: CA1725941064

Gene: PEX1

Linked Data

• ClinVar Variation Id: 1458579
• ClinVar RCV Id: RCV001956445 ; RCV003130639 ; RCV003475247
• dbSNP Id: rs2075434480
• gnomAD v4: 7-92506256-GC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92506257del , CM000669.2:g.92506257del	GRCh38
NC_000007.13:g.92135571del , CM000669.1:g.92135571del	GRCh37
NC_000007.12:g.91973507del	NCBI36
NG_008341.1:g.27275del
NG_008341.2:g.27275del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.1891del MANE Select	ENSP00000248633.4:p.Ala631LeufsTer14
ENST00000248633.8:c.1891del	ENSP00000248633.4:p.Ala631LeufsTer14
ENST00000422866.1:c.709del
ENST00000428214.5:c.1891del	ENSP00000394413.1:p.Ala631LeufsTer5
ENST00000438045.5:c.925del	ENSP00000410438.1:p.Ala309LeufsTer14
ENST00000484913.5:n.1930del
ENST00000496420.5:n.1567del
NM_000466.2:c.1891del	NP_000457.1:p.Ala631LeufsTer14
NM_001282677.1:c.1891del	NP_001269606.1:p.Ala631LeufsTer5
NM_001282678.1:c.1267del	NP_001269607.1:p.Ala423LeufsTer14
XM_005250433.3:c.142del	XP_005250490.1:p.Ala48LeufsTer14
XR_242246.3:n.1987del
XM_017012319.2:c.142del	XP_016867808.1:p.Ala48LeufsTer14
XR_001744808.2:n.918del
XR_242246.5:n.1938del
NM_000466.3:c.1891del MANE Select	NP_000457.1:p.Ala631LeufsTer14
NM_001282677.2:c.1891del	NP_001269606.1:p.Ala631LeufsTer5
NM_001282678.2:c.1267del	NP_001269607.1:p.Ala423LeufsTer14