Canonical Allele Identifier: CA2688347339
Gene: EXT1 HGNC NCBI

Linked Data

gnomAD v4: 8-118111436-GGATTCCTC-G
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.118111437_118111444del , CM000670.2:g.118111437_118111444del GRCh38
NC_000008.10:g.119123676_119123683del , CM000670.1:g.119123676_119123683del GRCh37
NC_000008.9:g.119192857_119192864del NCBI36
NG_007455.2:g.5376_5383del , LRG_493:g.5376_5383del

Transcript Alleles

HGVS Amino-acid Change
ENST00000378204.7:c.-398_-391del MANE Select ENSP00000367446.3:n.-398_-391del
ENST00000378204.6:c.-398_-391del ENSP00000367446.2:n.-398_-391del
NM_000127.2:c.-398_-391del , LRG_493t1:c.-398_-391del NP_000118.2:n.-398_-391del
NM_000127.3:c.-398_-391del MANE Select NP_000118.2:n.-398_-391del
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