Canonical Allele Identifier: CA2695199561

Gene: PEX1

Linked Data

• ClinVar Variation Id: 2677633
• ClinVar RCV Id: RCV003476767

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92499831dup , CM000669.2:g.92499831dup	GRCh38
NC_000007.13:g.92129145dup , CM000669.1:g.92129145dup	GRCh37
NC_000007.12:g.91967081dup	NCBI36
NG_008341.1:g.33702dup
NG_008341.2:g.33702dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000248633.9:c.2592dup MANE Select	ENSP00000248633.4:p.Leu865IlefsTer?
ENST00000248633.8:c.2592dup	ENSP00000248633.4:p.Leu865IlefsTer?
ENST00000428214.5:c.2421dup	ENSP00000394413.1:p.Leu808IlefsTer?
ENST00000438045.5:c.1626dup	ENSP00000410438.1:p.Leu543IlefsTer?
ENST00000484913.5:n.2631dup
ENST00000496420.5:n.2484dup
NM_000466.2:c.2592dup	NP_000457.1:p.Leu865IlefsTer?
NM_001282677.1:c.2421dup	NP_001269606.1:p.Leu808IlefsTer?
NM_001282678.1:c.1968dup	NP_001269607.1:p.Leu657IlefsTer?
XM_005250433.3:c.843dup	XP_005250490.1:p.Leu282IlefsTer?
XR_242246.3:n.2688dup
XM_017012319.2:c.843dup	XP_016867808.1:p.Leu282IlefsTer?
XR_001744808.2:n.1619dup
XR_242246.5:n.2639dup
NM_000466.3:c.2592dup MANE Select	NP_000457.1:p.Leu865IlefsTer?
NM_001282677.2:c.2421dup	NP_001269606.1:p.Leu808IlefsTer?
NM_001282678.2:c.1968dup	NP_001269607.1:p.Leu657IlefsTer?