Canonical Allele Identifier: CA3811369
Gene: PEX6 HGNC NCBI

Linked Data

ClinVar Variation Id: 224321
dbSNP Id: rs267608216

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