Canonical Allele Identifier: CA2688347293
Gene: EXT1 HGNC NCBI

Linked Data

gnomAD v4: 8-118111413-A-ACCAC
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.118111414_118111415insCACC , CM000670.2:g.118111414_118111415insCACC GRCh38
NC_000008.10:g.119123653_119123654insCACC , CM000670.1:g.119123653_119123654insCACC GRCh37
NC_000008.9:g.119192834_119192835insCACC NCBI36
NG_007455.2:g.5406_5407insGTGG , LRG_493:g.5406_5407insGTGG

Transcript Alleles

HGVS Amino-acid Change
ENST00000378204.7:c.-368_-367insGTGG MANE Select ENSP00000367446.3:n.-368_-367insGTGG
ENST00000378204.6:c.-368_-367insGTGG ENSP00000367446.2:n.-368_-367insGTGG
NM_000127.2:c.-368_-367insGTGG , LRG_493t1:c.-368_-367insGTGG NP_000118.2:n.-368_-367insGTGG
NM_000127.3:c.-368_-367insGTGG MANE Select NP_000118.2:n.-368_-367insGTGG
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