Canonical Allele Identifier: CA2573052689

Gene: PEX6

Linked Data

• ClinVar Variation Id: 1324885
• ClinVar RCV Id: RCV001782605 ; RCV002541207 ; RCV003475092
• dbSNP Id: rs2114247458

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.42969709dup , CM000668.2:g.42969709dup	GRCh38
NC_000006.11:g.42937447dup , CM000668.1:g.42937447dup	GRCh37
NC_000006.10:g.43045425dup	NCBI36
NG_008370.1:g.14535dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304611.13:c.1326dup MANE Select	ENSP00000303511.8:p.Ser443ValfsTer2
ENST00000244546.4:c.1326dup	ENSP00000244546.4:p.Ser443ValfsTer2
ENST00000304611.12:c.1326dup	ENSP00000303511.8:p.Ser443ValfsTer2
NM_000287.3:c.1326dup	NP_000278.3:p.Ser443ValfsTer2
NM_001316313.1:c.1062dup	NP_001303242.1:p.Ser355ValfsTer2
NR_133009.1:n.1419dup
XM_011514661.1:c.1242dup	XP_011512963.1:p.Ser415ValfsTer2
XR_926246.1:n.1419dup
XM_011514661.2:c.1242dup	XP_011512963.1:p.Ser415ValfsTer2
XR_001743466.2:n.2400dup
NM_000287.4:c.1326dup MANE Select	NP_000278.3:p.Ser443ValfsTer2
NM_001316313.2:c.1062dup	NP_001303242.1:p.Ser355ValfsTer2
NR_133009.2:n.1357dup