Canonical Allele Identifier: CA2739273010
Gene: PEX6 HGNC NCBI

Linked Data

ClinVar Variation Id: 2875302
ClinVar RCV Id: RCV003646802

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.42969812del , CM000668.2:g.42969812del GRCh38
NC_000006.11:g.42937550del , CM000668.1:g.42937550del GRCh37
NC_000006.10:g.43045528del NCBI36
NG_008370.1:g.14432del

Transcript Alleles

HGVS Amino-acid Change
ENST00000304611.13:c.1234-11del MANE Select ENSP00000303511.8:n.1234-11del
ENST00000244546.4:c.1234-11del ENSP00000244546.4:n.1234-11del
ENST00000304611.12:c.1234-11del ENSP00000303511.8:n.1234-11del
NM_000287.3:c.1234-11del NP_000278.3:n.1234-11del
NM_001316313.1:c.970-11del NP_001303242.1:n.970-11del
NR_133009.1:n.1327-11del
XM_011514661.1:c.1150-11del XP_011512963.1:n.1150-11del
XR_926246.1:n.1327-11del
XM_011514661.2:c.1150-11del XP_011512963.1:n.1150-11del
XR_001743466.2:n.2308-11del
NM_000287.4:c.1234-11del MANE Select NP_000278.3:n.1234-11del
NM_001316313.2:c.970-11del NP_001303242.1:n.970-11del
NR_133009.2:n.1265-11del