Canonical Allele Identifier: CA1118366745
Gene: EXT1 HGNC NCBI

Linked Data

dbSNP Id: rs1817900232
gnomAD v3: 8-118111347-CAAGACGGAGGAAAAGA-C
gnomAD v4: 8-118111347-CAAGACGGAGGAAAAGA-C
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.118111352_118111367del , CM000670.2:g.118111352_118111367del GRCh38
NC_000008.10:g.119123591_119123606del , CM000670.1:g.119123591_119123606del GRCh37
NC_000008.9:g.119192772_119192787del NCBI36
NG_007455.2:g.5457_5472del , LRG_493:g.5457_5472del

Transcript Alleles

HGVS Amino-acid Change
ENST00000378204.7:c.-317_-302del MANE Select ENSP00000367446.3:n.-317_-302del
ENST00000378204.6:c.-317_-302del ENSP00000367446.2:n.-317_-302del
NM_000127.2:c.-317_-302del , LRG_493t1:c.-317_-302del NP_000118.2:n.-317_-302del
NM_000127.3:c.-317_-302del MANE Select NP_000118.2:n.-317_-302del
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