Canonical Allele Identifier: CA3811174

Gene: PEX6

Linked Data

• ClinVar Variation Id: 495796
• ClinVar RCV Id: RCV000586808 ; RCV000665650 ; RCV000734107 ; RCV001834835 ; RCV003471938 ; RCV003336085
• dbSNP Id: rs267608227
• ExAC: 6:42934533 TC / T
• gnomAD v2: 6-42934533-TC-T
• gnomAD v3: 6-42966795-TC-T
• gnomAD v4: 6-42966795-TC-T
• MyVariant Identifiers: chr6:g.42934534del (hg19) ; chr6:g.42966796del (hg38)
• PubMed: PMID:19142205 ; PMID:21031596

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.42966797del , CM000668.2:g.42966797del	GRCh38
NC_000006.11:g.42934535del , CM000668.1:g.42934535del	GRCh37
NC_000006.10:g.43042513del	NCBI36
NG_008370.1:g.17448del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304611.13:c.1947del MANE Select	ENSP00000303511.8:p.Ile650SerfsTer10
ENST00000244546.4:c.1947del	ENSP00000244546.4:p.Ile650SerfsTer10
ENST00000304611.12:c.1947del	ENSP00000303511.8:p.Ile650SerfsTer10
NM_000287.3:c.1947del	NP_000278.3:p.Ile650SerfsTer10
NM_001316313.1:c.1683del	NP_001303242.1:p.Ile562SerfsTer10
NR_133009.1:n.2040del
XM_011514661.1:c.1863del	XP_011512963.1:p.Ile622SerfsTer10
XR_926246.1:n.1928del
XM_011514661.2:c.1863del	XP_011512963.1:p.Ile622SerfsTer10
XR_001743466.2:n.2909del
NM_000287.4:c.1947del MANE Select	NP_000278.3:p.Ile650SerfsTer10
NM_001316313.2:c.1683del	NP_001303242.1:p.Ile562SerfsTer10
NR_133009.2:n.1978del