Canonical Allele Identifier: CA846256198
Gene: EXT1 HGNC NCBI

Linked Data

dbSNP Id: rs937343061
gnomAD v3: 8-118111703-C-CGGCGGCGGCGGCGCTGGGT
gnomAD v4: 8-118111703-C-CGGCGGCGGCGGCGCTGGGT
MyVariant Identifiers: chr8:g.119123942_119123943insGGCGGCGGCGGCGCTGGGT (hg19) chr8:g.118111703_118111704insGGCGGCGGCGGCGCTGGGT (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.118111718_118111736dup , CM000670.2:g.118111718_118111736dup GRCh38
NC_000008.10:g.119123957_119123975dup , CM000670.1:g.119123957_119123975dup GRCh37
NC_000008.9:g.119193138_119193156dup NCBI36
NG_007455.2:g.5098_5116dup , LRG_493:g.5098_5116dup

Transcript Alleles

HGVS Amino-acid change
ENST00000378204.7:c.-676_-658dup MANE Select ENSP00000367446.3:n.-676_-658dup
ENST00000378204.6:c.-676_-658dup ENSP00000367446.2:n.-676_-658dup
NM_000127.2:c.-676_-658dup , LRG_493t1:c.-676_-658dup NP_000118.2:n.-676_-658dup
NM_000127.3:c.-676_-658dup MANE Select NP_000118.2:n.-676_-658dup
Search 100 bp 5'
Search 100 bp 3'