Canonical Allele Identifier: CA2499218300

Gene: PEX6

Linked Data

• ClinVar Variation Id: 1073363
• ClinVar RCV Id: RCV001386346
• dbSNP Id: rs2114247385

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.42969679del , CM000668.2:g.42969679del	GRCh38
NC_000006.11:g.42937417del , CM000668.1:g.42937417del	GRCh37
NC_000006.10:g.43045395del	NCBI36
NG_008370.1:g.14566del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304611.13:c.1357del MANE Select	ENSP00000303511.8:p.Leu453SerfsTer8
ENST00000244546.4:c.1357del	ENSP00000244546.4:p.Leu453SerfsTer8
ENST00000304611.12:c.1357del	ENSP00000303511.8:p.Leu453SerfsTer8
NM_000287.3:c.1357del	NP_000278.3:p.Leu453SerfsTer8
NM_001316313.1:c.1093del	NP_001303242.1:p.Leu365SerfsTer8
NR_133009.1:n.1450del
XM_011514661.1:c.1273del	XP_011512963.1:p.Leu425SerfsTer8
XR_926246.1:n.1450del
XM_011514661.2:c.1273del	XP_011512963.1:p.Leu425SerfsTer8
XR_001743466.2:n.2431del
NM_000287.4:c.1357del MANE Select	NP_000278.3:p.Leu453SerfsTer8
NM_001316313.2:c.1093del	NP_001303242.1:p.Leu365SerfsTer8
NR_133009.2:n.1388del