Canonical Allele Identifier: CA2695199558

Gene: PEX1

Linked Data

• ClinVar Variation Id: 2677630
• ClinVar RCV Id: RCV003476764

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92496728del , CM000669.2:g.92496728del	GRCh38
NC_000007.13:g.92126042del , CM000669.1:g.92126042del	GRCh37
NC_000007.12:g.91963978del	NCBI36
NG_008341.1:g.36806del
NG_008341.2:g.36806del

Transcript Alleles

HGVS	Amino-acid change
ENST00000248633.9:c.2770del MANE Select	ENSP00000248633.4:p.Asp924IlefsTer?
ENST00000248633.8:c.2770del	ENSP00000248633.4:p.Asp924IlefsTer?
ENST00000428214.5:c.2599del	ENSP00000394413.1:p.Asp867IlefsTer?
ENST00000438045.5:c.1804del	ENSP00000410438.1:p.Asp602IlefsTer?
ENST00000484913.5:n.2809del
ENST00000496420.5:n.2662del
NM_000466.2:c.2770del	NP_000457.1:p.Asp924IlefsTer?
NM_001282677.1:c.2599del	NP_001269606.1:p.Asp867IlefsTer?
NM_001282678.1:c.2146del	NP_001269607.1:p.Asp716IlefsTer?
XM_005250433.3:c.1021del	XP_005250490.1:p.Asp341IlefsTer?
XR_242246.3:n.2866del
XM_017012319.2:c.1021del	XP_016867808.1:p.Asp341IlefsTer?
XR_001744808.2:n.1797del
XR_242246.5:n.2817del
NM_000466.3:c.2770del MANE Select	NP_000457.1:p.Asp924IlefsTer?
NM_001282677.2:c.2599del	NP_001269606.1:p.Asp867IlefsTer?
NM_001282678.2:c.2146del	NP_001269607.1:p.Asp716IlefsTer?