Canonical Allele Identifier: CA2688347327
Gene: EXT1 HGNC NCBI

Linked Data

gnomAD v4: 8-118111432-T-TACACG
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.118111432_118111433insACACG , CM000670.2:g.118111432_118111433insACACG GRCh38
NC_000008.10:g.119123671_119123672insACACG , CM000670.1:g.119123671_119123672insACACG GRCh37
NC_000008.9:g.119192852_119192853insACACG NCBI36
NG_007455.2:g.5387_5388insCGTGT , LRG_493:g.5387_5388insCGTGT

Transcript Alleles

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