Canonical Allele Identifier: CA1624312487
Gene: PEX6 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.42969644_42969652delinsCCCTGGGGT , CM000668.2:g.42969644_42969652delinsCCCTGGGGT GRCh38
NC_000006.11:g.42937382_42937390delinsCCCTGGGGT , CM000668.1:g.42937382_42937390delinsCCCTGGGGT GRCh37
NC_000006.10:g.43045360_43045368delinsCCCTGGGGT NCBI36
NG_008370.1:g.14592_14600delinsACCCCAGGG

Transcript Alleles

HGVS Amino-acid change
ENST00000304611.13:c.1367+16_1367+24delinsACCCCAGGG MANE Select ENSP00000303511.8:n.1367+16_1367+24delins...
ENST00000244546.4:c.1367+16_1367+24delinsACCCCAGGG ENSP00000244546.4:n.1367+16_1367+24delins...
ENST00000304611.12:c.1367+16_1367+24delinsACCCCAGGG ENSP00000303511.8:n.1367+16_1367+24delins...
NM_000287.3:c.1367+16_1367+24delinsACCCCAGGG NP_000278.3:n.1367+16_1367+24delinsACCCCA...
NM_001316313.1:c.1103+16_1103+24delinsACCCCAGGG NP_001303242.1:n.1103+16_1103+24delinsACC...
NR_133009.1:n.1460+16_1460+24delinsACCCCAGGG
XM_011514661.1:c.1283+16_1283+24delinsACCCCAGGG XP_011512963.1:n.1283+16_1283+24delinsACC...
XR_926246.1:n.1460+16_1460+24delinsACCCCAGGG
XM_011514661.2:c.1283+16_1283+24delinsACCCCAGGG XP_011512963.1:n.1283+16_1283+24delinsACC...
XR_001743466.2:n.2441+16_2441+24delinsACCCCAGGG
NM_000287.4:c.1367+16_1367+24delinsACCCCAGGG MANE Select NP_000278.3:n.1367+16_1367+24delinsACCCCA...
NM_001316313.2:c.1103+16_1103+24delinsACCCCAGGG NP_001303242.1:n.1103+16_1103+24delinsACC...
NR_133009.2:n.1398+16_1398+24delinsACCCCAGGG
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