Canonical Allele Identifier: CA2580078551
Gene: EXT1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2024673
ClinVar RCV Id: RCV002847869
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.117837118_117837119del , CM000670.2:g.117837118_117837119del GRCh38
NC_000008.10:g.118849357_118849358del , CM000670.1:g.118849357_118849358del GRCh37
NC_000008.9:g.118918538_118918539del NCBI36
NG_007455.2:g.279702_279703del , LRG_493:g.279702_279703del

Transcript Alleles

HGVS Amino-acid Change
ENST00000684189.1:n.513_514del
ENST00000378204.7:c.1046_1047del MANE Select ENSP00000367446.3:p.Glu349GlyfsTer21
ENST00000436216.2:c.414_415del
ENST00000378204.6:c.1046_1047del ENSP00000367446.2:p.Glu349GlyfsTer21
ENST00000436216.1:c.414_415del
ENST00000437196.1:c.74-1567_74-1566del ENSP00000407299.1:n.74-1567_74-1566del
NM_000127.2:c.1046_1047del , LRG_493t1:c.1046_1047del NP_000118.2:p.Glu349GlyfsTer21
NM_000127.3:c.1046_1047del MANE Select NP_000118.2:p.Glu349GlyfsTer21
Search 100 bp 5'
Search 100 bp 3'