Canonical Allele Identifier: CA2688347310
Gene: EXT1 HGNC NCBI

Linked Data

gnomAD v4: 8-118111427-T-TACAC
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.118111427_118111428insACAC , CM000670.2:g.118111427_118111428insACAC GRCh38
NC_000008.10:g.119123666_119123667insACAC , CM000670.1:g.119123666_119123667insACAC GRCh37
NC_000008.9:g.119192847_119192848insACAC NCBI36
NG_007455.2:g.5392_5393insGTGT , LRG_493:g.5392_5393insGTGT

Transcript Alleles

HGVS Amino-acid Change
ENST00000378204.7:c.-382_-381insGTGT MANE Select ENSP00000367446.3:n.-382_-381insGTGT
ENST00000378204.6:c.-382_-381insGTGT ENSP00000367446.2:n.-382_-381insGTGT
NM_000127.2:c.-382_-381insGTGT , LRG_493t1:c.-382_-381insGTGT NP_000118.2:n.-382_-381insGTGT
NM_000127.3:c.-382_-381insGTGT MANE Select NP_000118.2:n.-382_-381insGTGT
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