Canonical Allele Identifier: CA138220898
Gene: PEX6 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.42964462_42964464delinsTGT , CM000668.2:g.42964462_42964464delinsTGT GRCh38
NC_000006.11:g.42932200_42932202delinsTGT , CM000668.1:g.42932200_42932202delinsTGT GRCh37
NC_000006.10:g.43040178_43040180delinsTGT NCBI36
NG_008370.1:g.19780_19782delinsACA
NG_008396.1:g.8701_8703delinsTGT

Transcript Alleles

HGVS Amino-acid Change
ENST00000304611.13:c.2814_2816delinsACA MANE Select ENSP00000303511.8:p.Pro939Gln
ENST00000244546.4:c.2567_2569delinsACA ENSP00000244546.4:n.2567_2569delinsACA
ENST00000304611.12:c.2814_2816delinsACA ENSP00000303511.8:p.Pro939Gln
NM_000287.3:c.2814_2816delinsACA NP_000278.3:p.Pro939Gln
NM_001316313.1:c.2550_2552delinsACA NP_001303242.1:p.Pro851Gln
NR_133009.1:n.2660_2662delinsACA
XM_011514661.1:c.2730_2732delinsACA XP_011512963.1:p.Pro911Gln
XM_011514661.2:c.2730_2732delinsACA XP_011512963.1:p.Pro911Gln
XR_001743466.2:n.3776_3778delinsACA
NM_000287.4:c.2814_2816delinsACA MANE Select NP_000278.3:p.Pro939Gln
NM_001316313.2:c.2550_2552delinsACA NP_001303242.1:p.Pro851Gln
NR_133009.2:n.2598_2600delinsACA
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