Canonical Allele Identifier: CA2688347276
Gene: EXT1 HGNC NCBI

Linked Data

gnomAD v4: 8-118111399-C-CTTTTT
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.118111399_118111400insTTTTT , CM000670.2:g.118111399_118111400insTTTTT GRCh38
NC_000008.10:g.119123638_119123639insTTTTT , CM000670.1:g.119123638_119123639insTTTTT GRCh37
NC_000008.9:g.119192819_119192820insTTTTT NCBI36
NG_007455.2:g.5420_5421insAAAAA , LRG_493:g.5420_5421insAAAAA

Transcript Alleles

HGVS Amino-acid Change
ENST00000378204.7:c.-354_-353insAAAAA MANE Select ENSP00000367446.3:n.-354_-353insAAAAA
ENST00000378204.6:c.-354_-353insAAAAA ENSP00000367446.2:n.-354_-353insAAAAA
NM_000127.2:c.-354_-353insAAAAA , LRG_493t1:c.-354_-353insAAAAA NP_000118.2:n.-354_-353insAAAAA
NM_000127.3:c.-354_-353insAAAAA MANE Select NP_000118.2:n.-354_-353insAAAAA
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