Canonical Allele Identifier: CA2697550117
Gene: EXT1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2736800
ClinVar RCV Id: RCV003497348
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.117807334dup , CM000670.2:g.117807334dup GRCh38
NC_000008.10:g.118819573dup , CM000670.1:g.118819573dup GRCh37
NC_000008.9:g.118888754dup NCBI36
NG_007455.2:g.309487dup , LRG_493:g.309487dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000684189.1:n.1234dup
ENST00000378204.7:c.1767dup MANE Select ENSP00000367446.3:p.Val590CysfsTer12
ENST00000378204.6:c.1767dup ENSP00000367446.2:p.Val590CysfsTer12
ENST00000437196.1:c.*658dup ENSP00000407299.1:n.*658dup
NM_000127.2:c.1767dup , LRG_493t1:c.1767dup NP_000118.2:p.Val590CysfsTer12
NM_000127.3:c.1767dup MANE Select NP_000118.2:p.Val590CysfsTer12
Search 100 bp 5'
Search 100 bp 3'