Canonical Allele Identifier: CA2770830011
Gene: PEX6 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.42969350_42969558del , CM000668.2:g.42969350_42969558del GRCh38
NC_000006.11:g.42937088_42937296del , CM000668.1:g.42937088_42937296del GRCh37
NC_000006.10:g.43045066_43045274del NCBI36
NG_008370.1:g.14691_14899del

Transcript Alleles

HGVS Amino-acid change
ENST00000304611.13:c.1367+115_1367+323del MANE Select ENSP00000303511.8:n.1367+115_1367+323del
ENST00000244546.4:c.1367+115_1367+323del ENSP00000244546.4:n.1367+115_1367+323del
ENST00000304611.12:c.1367+115_1367+323del ENSP00000303511.8:n.1367+115_1367+323del
NM_000287.3:c.1367+115_1367+323del NP_000278.3:n.1367+115_1367+323del
NM_001316313.1:c.1103+115_1103+323del NP_001303242.1:n.1103+115_1103+323del
NR_133009.1:n.1460+115_1460+323del
XM_011514661.1:c.1283+115_1283+323del XP_011512963.1:n.1283+115_1283+323del
XR_926246.1:n.1460+115_1460+323del
XM_011514661.2:c.1283+115_1283+323del XP_011512963.1:n.1283+115_1283+323del
XR_001743466.2:n.2441+115_2441+323del
NM_000287.4:c.1367+115_1367+323del MANE Select NP_000278.3:n.1367+115_1367+323del
NM_001316313.2:c.1103+115_1103+323del NP_001303242.1:n.1103+115_1103+323del
NR_133009.2:n.1398+115_1398+323del