Canonical Allele Identifier: CA1814090386
Gene: EXT1 HGNC NCBI

Linked Data

dbSNP Id: rs1817901065
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.118111377_118111380del , CM000670.2:g.118111377_118111380del GRCh38
NC_000008.10:g.119123616_119123619del , CM000670.1:g.119123616_119123619del GRCh37
NC_000008.9:g.119192797_119192800del NCBI36
NG_007455.2:g.5441_5444del , LRG_493:g.5441_5444del

Transcript Alleles

HGVS Amino-acid Change
ENST00000378204.7:c.-333_-330del MANE Select ENSP00000367446.3:n.-333_-330del
ENST00000378204.6:c.-333_-330del ENSP00000367446.2:n.-333_-330del
NM_000127.2:c.-333_-330del , LRG_493t1:c.-333_-330del NP_000118.2:n.-333_-330del
NM_000127.3:c.-333_-330del MANE Select NP_000118.2:n.-333_-330del
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