Canonical Allele Identifier: CA2688347326
Gene: EXT1 HGNC NCBI

Linked Data

gnomAD v4: 8-118111432-T-TACAC
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.118111432_118111433insACAC , CM000670.2:g.118111432_118111433insACAC GRCh38
NC_000008.10:g.119123671_119123672insACAC , CM000670.1:g.119123671_119123672insACAC GRCh37
NC_000008.9:g.119192852_119192853insACAC NCBI36
NG_007455.2:g.5387_5388insGTGT , LRG_493:g.5387_5388insGTGT

Transcript Alleles

HGVS Amino-acid Change
ENST00000378204.7:c.-387_-386insGTGT MANE Select ENSP00000367446.3:n.-387_-386insGTGT
ENST00000378204.6:c.-387_-386insGTGT ENSP00000367446.2:n.-387_-386insGTGT
NM_000127.2:c.-387_-386insGTGT , LRG_493t1:c.-387_-386insGTGT NP_000118.2:n.-387_-386insGTGT
NM_000127.3:c.-387_-386insGTGT MANE Select NP_000118.2:n.-387_-386insGTGT
Search 100 bp 5'
Search 100 bp 3'