Canonical Allele Identifier: CA2770830016
Gene: PEX6 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.42969615del , CM000668.2:g.42969615del GRCh38
NC_000006.11:g.42937353del , CM000668.1:g.42937353del GRCh37
NC_000006.10:g.43045331del NCBI36
NG_008370.1:g.14629del

Transcript Alleles

HGVS Amino-acid Change
ENST00000304611.13:c.1367+53del MANE Select ENSP00000303511.8:n.1367+53del
ENST00000244546.4:c.1367+53del ENSP00000244546.4:n.1367+53del
ENST00000304611.12:c.1367+53del ENSP00000303511.8:n.1367+53del
NM_000287.3:c.1367+53del NP_000278.3:n.1367+53del
NM_001316313.1:c.1103+53del NP_001303242.1:n.1103+53del
NR_133009.1:n.1460+53del
XM_011514661.1:c.1283+53del XP_011512963.1:n.1283+53del
XR_926246.1:n.1460+53del
XM_011514661.2:c.1283+53del XP_011512963.1:n.1283+53del
XR_001743466.2:n.2441+53del
NM_000287.4:c.1367+53del MANE Select NP_000278.3:n.1367+53del
NM_001316313.2:c.1103+53del NP_001303242.1:n.1103+53del
NR_133009.2:n.1398+53del