Canonical Allele Identifier: CA916081515
Gene: EXT1 HGNC NCBI

Linked Data

ClinVar Variation Id: 846736
ClinVar RCV Id: RCV001050119
dbSNP Id: rs1823254431
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.117807328_117807332del , CM000670.2:g.117807328_117807332del GRCh38
NC_000008.10:g.118819567_118819571del , CM000670.1:g.118819567_118819571del GRCh37
NC_000008.9:g.118888748_118888752del NCBI36
NG_007455.2:g.309490_309494del , LRG_493:g.309490_309494del

Transcript Alleles

HGVS Amino-acid Change
ENST00000684189.1:n.1237_1241del
ENST00000378204.7:c.1770_1774del MANE Select ENSP00000367446.3:p.Gly591ProfsTer9
ENST00000378204.6:c.1770_1774del ENSP00000367446.2:p.Gly591ProfsTer9
ENST00000437196.1:c.*661_*665del ENSP00000407299.1:n.*661_*665del
NM_000127.2:c.1770_1774del , LRG_493t1:c.1770_1774del NP_000118.2:p.Gly591ProfsTer9
NM_000127.3:c.1770_1774del MANE Select NP_000118.2:p.Gly591ProfsTer9
Search 100 bp 5'
Search 100 bp 3'