Canonical Allele Identifier: CA2688347618
Gene: EXT1 HGNC NCBI

Linked Data

gnomAD v4: 8-118111759-GCCCC-G
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.118111760_118111763del , CM000670.2:g.118111760_118111763del GRCh38
NC_000008.10:g.119123999_119124002del , CM000670.1:g.119123999_119124002del GRCh37
NC_000008.9:g.119193180_119193183del NCBI36
NG_007455.2:g.5057_5060del , LRG_493:g.5057_5060del

Transcript Alleles

HGVS Amino-acid Change
ENST00000378204.7:c.-717_-714del MANE Select ENSP00000367446.3:n.-717_-714del
ENST00000378204.6:c.-717_-714del ENSP00000367446.2:n.-717_-714del
NM_000127.2:c.-717_-714del , LRG_493t1:c.-717_-714del NP_000118.2:n.-717_-714del
NM_000127.3:c.-717_-714del MANE Select NP_000118.2:n.-717_-714del
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