Canonical Allele Identifier: CA2688347285
Gene: EXT1 HGNC NCBI

Linked Data

gnomAD v4: 8-118111404-A-AT
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.118111404_118111405insT , CM000670.2:g.118111404_118111405insT GRCh38
NC_000008.10:g.119123643_119123644insT , CM000670.1:g.119123643_119123644insT GRCh37
NC_000008.9:g.119192824_119192825insT NCBI36
NG_007455.2:g.5415_5416insA , LRG_493:g.5415_5416insA

Transcript Alleles

HGVS Amino-acid Change
ENST00000378204.7:c.-359_-358insA MANE Select ENSP00000367446.3:n.-359_-358insA
ENST00000378204.6:c.-359_-358insA ENSP00000367446.2:n.-359_-358insA
NM_000127.2:c.-359_-358insA , LRG_493t1:c.-359_-358insA NP_000118.2:n.-359_-358insA
NM_000127.3:c.-359_-358insA MANE Select NP_000118.2:n.-359_-358insA
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Search 100 bp 3'