Canonical Allele Identifier: CA3811369

Gene: PEX6

Linked Data

• ClinVar Variation Id: 224321
• ClinVar RCV Id: RCV000410284 ; RCV000411317 ; RCV001090590 ; RCV003987452 ; RCV000240725 ; RCV000781716 ; RCV001276616 ; RCV004547505
• dbSNP Id: rs267608216
• ExAC: 6:42937451 AAGGCCTCC / A
• gnomAD v2: 6-42937451-AAGGCCTCC-A
• gnomAD v3: 6-42969713-AAGGCCTCC-A
• gnomAD v4: 6-42969713-AAGGCCTCC-A
• MyVariant Identifiers: chr6:g.42937452_42937459del (hg19) ; chr6:g.42969715_42969722del (hg38) ; chr6:g.42969714_42969721del (hg38)
• PubMed: PMID:19142205 ; PMID:19877282 ; PMID:27302843

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.42969720_42969727del , CM000668.2:g.42969720_42969727del	GRCh38
NC_000006.11:g.42937458_42937465del , CM000668.1:g.42937458_42937465del	GRCh37
NC_000006.10:g.43045436_43045443del	NCBI36
NG_008370.1:g.14523_14530del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304611.13:c.1314_1321del MANE Select	ENSP00000303511.8:p.Glu439GlyfsTer3
ENST00000244546.4:c.1314_1321del	ENSP00000244546.4:p.Glu439GlyfsTer3
ENST00000304611.12:c.1314_1321del	ENSP00000303511.8:p.Glu439GlyfsTer3
NM_000287.3:c.1314_1321del	NP_000278.3:p.Glu439GlyfsTer3
NM_001316313.1:c.1050_1057del	NP_001303242.1:p.Glu351GlyfsTer3
NR_133009.1:n.1407_1414del
XM_011514661.1:c.1230_1237del	XP_011512963.1:p.Glu411GlyfsTer3
XR_926246.1:n.1407_1414del
XM_011514661.2:c.1230_1237del	XP_011512963.1:p.Glu411GlyfsTer3
XR_001743466.2:n.2388_2395del
NM_000287.4:c.1314_1321del MANE Select	NP_000278.3:p.Glu439GlyfsTer3
NM_001316313.2:c.1050_1057del	NP_001303242.1:p.Glu351GlyfsTer3
NR_133009.2:n.1345_1352del