Canonical Allele Identifier: CA2845783238
Gene: PEX6 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.42969870_42969871insG , CM000668.2:g.42969870_42969871insG GRCh38
NC_000006.11:g.42937608_42937609insG , CM000668.1:g.42937608_42937609insG GRCh37
NC_000006.10:g.43045586_43045587insG NCBI36
NG_008370.1:g.14373_14374insC

Transcript Alleles

HGVS Amino-acid Change
ENST00000304611.13:c.1233+14_1233+15insC MANE Select ENSP00000303511.8:n.1233+14_1233+15insC
ENST00000244546.4:c.1233+14_1233+15insC ENSP00000244546.4:n.1233+14_1233+15insC
ENST00000304611.12:c.1233+14_1233+15insC ENSP00000303511.8:n.1233+14_1233+15insC
NM_000287.3:c.1233+14_1233+15insC NP_000278.3:n.1233+14_1233+15insC
NM_001316313.1:c.969+14_969+15insC NP_001303242.1:n.969+14_969+15insC
NR_133009.1:n.1326+14_1326+15insC
XM_011514661.1:c.1149+14_1149+15insC XP_011512963.1:n.1149+14_1149+15insC
XR_926246.1:n.1326+14_1326+15insC
XM_011514661.2:c.1149+14_1149+15insC XP_011512963.1:n.1149+14_1149+15insC
XR_001743466.2:n.2307+14_2307+15insC
NM_000287.4:c.1233+14_1233+15insC MANE Select NP_000278.3:n.1233+14_1233+15insC
NM_001316313.2:c.969+14_969+15insC NP_001303242.1:n.969+14_969+15insC
NR_133009.2:n.1264+14_1264+15insC