Canonical Allele Identifier: CA2688347564
Gene: EXT1 HGNC NCBI

Linked Data

dbSNP Id: rs2130047877
gnomAD v4: 8-118111706-CGGCGGCGGCGCTGGGT-C
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.118111717_118111732del , CM000670.2:g.118111717_118111732del GRCh38
NC_000008.10:g.119123956_119123971del , CM000670.1:g.119123956_119123971del GRCh37
NC_000008.9:g.119193137_119193152del NCBI36
NG_007455.2:g.5098_5113del , LRG_493:g.5098_5113del

Transcript Alleles

HGVS Amino-acid change
ENST00000378204.7:c.-676_-661del MANE Select ENSP00000367446.3:n.-676_-661del
ENST00000378204.6:c.-676_-661del ENSP00000367446.2:n.-676_-661del
NM_000127.2:c.-676_-661del , LRG_493t1:c.-676_-661del NP_000118.2:n.-676_-661del
NM_000127.3:c.-676_-661del MANE Select NP_000118.2:n.-676_-661del
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