Canonical Allele Identifier: CA2688347291
Gene: EXT1 HGNC NCBI

Linked Data

gnomAD v4: 8-118111409-CAA-C
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.118111410_118111411del , CM000670.2:g.118111410_118111411del GRCh38
NC_000008.10:g.119123649_119123650del , CM000670.1:g.119123649_119123650del GRCh37
NC_000008.9:g.119192830_119192831del NCBI36
NG_007455.2:g.5409_5410del , LRG_493:g.5409_5410del

Transcript Alleles

HGVS Amino-acid Change
ENST00000378204.7:c.-365_-364del MANE Select ENSP00000367446.3:n.-365_-364del
ENST00000378204.6:c.-365_-364del ENSP00000367446.2:n.-365_-364del
NM_000127.2:c.-365_-364del , LRG_493t1:c.-365_-364del NP_000118.2:n.-365_-364del
NM_000127.3:c.-365_-364del MANE Select NP_000118.2:n.-365_-364del
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