Canonical Allele Identifier: CA2697550118
Gene: EXT1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2718588
ClinVar RCV Id: RCV003499221
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.118110098del , CM000670.2:g.118110098del GRCh38
NC_000008.10:g.119122337del , CM000670.1:g.119122337del GRCh37
NC_000008.9:g.119191518del NCBI36
NG_007455.2:g.6722del , LRG_493:g.6722del

Transcript Alleles

HGVS Amino-acid Change
ENST00000378204.7:c.949del MANE Select ENSP00000367446.3:p.Thr317ProfsTer?
ENST00000436216.2:c.317del
ENST00000378204.6:c.949del ENSP00000367446.2:p.Thr317ProfsTer?
ENST00000436216.1:c.317del
ENST00000437196.1:c.73+876del ENSP00000407299.1:n.73+876del
NM_000127.2:c.949del , LRG_493t1:c.949del NP_000118.2:p.Thr317ProfsTer?
NM_000127.3:c.949del MANE Select NP_000118.2:p.Thr317ProfsTer?
Search 100 bp 5'
Search 100 bp 3'