Canonical Allele Identifier: CA2688347300
Gene: EXT1 HGNC NCBI

Linked Data

gnomAD v4: 8-118111422-TTGC-T
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.118111423_118111425del , CM000670.2:g.118111423_118111425del GRCh38
NC_000008.10:g.119123662_119123664del , CM000670.1:g.119123662_119123664del GRCh37
NC_000008.9:g.119192843_119192845del NCBI36
NG_007455.2:g.5395_5397del , LRG_493:g.5395_5397del

Transcript Alleles

HGVS Amino-acid Change
ENST00000378204.7:c.-379_-377del MANE Select ENSP00000367446.3:n.-379_-377del
ENST00000378204.6:c.-379_-377del ENSP00000367446.2:n.-379_-377del
NM_000127.2:c.-379_-377del , LRG_493t1:c.-379_-377del NP_000118.2:n.-379_-377del
NM_000127.3:c.-379_-377del MANE Select NP_000118.2:n.-379_-377del
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