Canonical Allele Identifier: CA2579209495
Gene: PEX2 HGNC NCBI

Linked Data

gnomAD v4: 8-76983231-T-TA
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.76983231_76983232insA , CM000670.2:g.76983231_76983232insA GRCh38
NC_000008.10:g.77895467_77895468insA , CM000670.1:g.77895467_77895468insA GRCh37
NC_000008.9:g.78058022_78058023insA NCBI36
NG_008371.1:g.22057_22058insT

Transcript Alleles

HGVS Amino-acid Change
ENST00000357039.9:c.*29_*30insT MANE Select ENSP00000349543.4:n.*29_*30insT
ENST00000357039.8:c.*29_*30insT ENSP00000349543.4:n.*29_*30insT
ENST00000520103.5:c.*29_*30insT ENSP00000428590.1:n.*29_*30insT
ENST00000522527.5:c.*29_*30insT ENSP00000428638.1:n.*29_*30insT
NM_000318.2:c.*29_*30insT NP_000309.1:n.*29_*30insT
NM_001079867.1:c.*29_*30insT NP_001073336.1:n.*29_*30insT
NM_001172086.1:c.*29_*30insT NP_001165557.1:n.*29_*30insT
NM_001172087.1:c.*29_*30insT NP_001165558.1:n.*29_*30insT
NM_000318.3:c.*29_*30insT MANE Select NP_000309.2:n.*29_*30insT
NM_001079867.2:c.*29_*30insT NP_001073336.2:n.*29_*30insT
NM_001172086.2:c.*29_*30insT NP_001165557.2:n.*29_*30insT
NM_001172087.2:c.*29_*30insT NP_001165558.2:n.*29_*30insT
Search 100 bp 5'
Search 100 bp 3'