Canonical Allele Identifier: CA2580074568

Gene: PEX6

Linked Data

• ClinVar Variation Id: 1725571
• ClinVar RCV Id: RCV002309255

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.42969721del , CM000668.2:g.42969721del	GRCh38
NC_000006.11:g.42937459del , CM000668.1:g.42937459del	GRCh37
NC_000006.10:g.43045437del	NCBI36
NG_008370.1:g.14524del

Transcript Alleles

HGVS	Amino-acid change
ENST00000304611.13:c.1315del MANE Select	ENSP00000303511.8:p.Glu439ArgfsTer11
ENST00000244546.4:c.1315del	ENSP00000244546.4:p.Glu439ArgfsTer11
ENST00000304611.12:c.1315del	ENSP00000303511.8:p.Glu439ArgfsTer11
NM_000287.3:c.1315del	NP_000278.3:p.Glu439ArgfsTer11
NM_001316313.1:c.1051del	NP_001303242.1:p.Glu351ArgfsTer11
NR_133009.1:n.1408del
XM_011514661.1:c.1231del	XP_011512963.1:p.Glu411ArgfsTer11
XR_926246.1:n.1408del
XM_011514661.2:c.1231del	XP_011512963.1:p.Glu411ArgfsTer11
XR_001743466.2:n.2389del
NM_000287.4:c.1315del MANE Select	NP_000278.3:p.Glu439ArgfsTer11
NM_001316313.2:c.1051del	NP_001303242.1:p.Glu351ArgfsTer11
NR_133009.2:n.1346del