Canonical Allele Identifier: CA184682741
Gene: EXT1 HGNC NCBI

Linked Data

dbSNP Id: rs928631288
gnomAD v2: 8-119123939-CGGCGGCGGCGGCGGCGCTGGGT-C
gnomAD v3: 8-118111700-CGGCGGCGGCGGCGGCGCTGGGT-C
gnomAD v4: 8-118111700-CGGCGGCGGCGGCGGCGCTGGGT-C
MyVariant Identifiers: chr8:g.119123940_119123961del (hg19) chr8:g.118111701_118111722del (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.118111714_118111735del , CM000670.2:g.118111714_118111735del GRCh38
NC_000008.10:g.119123953_119123974del , CM000670.1:g.119123953_119123974del GRCh37
NC_000008.9:g.119193134_119193155del NCBI36
NG_007455.2:g.5098_5119del , LRG_493:g.5098_5119del

Transcript Alleles

HGVS Amino-acid Change
ENST00000378204.7:c.-676_-655del MANE Select ENSP00000367446.3:n.-676_-655del
ENST00000378204.6:c.-676_-655del ENSP00000367446.2:n.-676_-655del
NM_000127.2:c.-676_-655del , LRG_493t1:c.-676_-655del NP_000118.2:n.-676_-655del
NM_000127.3:c.-676_-655del MANE Select NP_000118.2:n.-676_-655del
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