Canonical Allele Identifier: CA1118366933
Gene: EXT1 HGNC NCBI

Linked Data

dbSNP Id: rs886062641
gnomAD v3: 8-118111697-AGGCGGCGGC-A
gnomAD v4: 8-118111697-AGGCGGCGGC-A
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.118111708_118111716del , CM000670.2:g.118111708_118111716del GRCh38
NC_000008.10:g.119123947_119123955del , CM000670.1:g.119123947_119123955del GRCh37
NC_000008.9:g.119193128_119193136del NCBI36
NG_007455.2:g.5114_5122del , LRG_493:g.5114_5122del

Transcript Alleles

HGVS Amino-acid change
ENST00000378204.7:c.-660_-652del MANE Select ENSP00000367446.3:n.-660_-652del
ENST00000378204.6:c.-660_-652del ENSP00000367446.2:n.-660_-652del
NM_000127.2:c.-660_-652del , LRG_493t1:c.-660_-652del NP_000118.2:n.-660_-652del
NM_000127.3:c.-660_-652del MANE Select NP_000118.2:n.-660_-652del
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