Canonical Allele Identifier: CA2688347000
Gene: EXT1 HGNC NCBI

Linked Data

gnomAD v4: 8-118110050-C-CT
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.118110051dup , CM000670.2:g.118110051dup GRCh38
NC_000008.10:g.119122290dup , CM000670.1:g.119122290dup GRCh37
NC_000008.9:g.119191471dup NCBI36
NG_007455.2:g.6769dup , LRG_493:g.6769dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000378204.7:c.962+34dup MANE Select ENSP00000367446.3:n.962+34dup
ENST00000436216.2:c.330+34dup
ENST00000378204.6:c.962+34dup ENSP00000367446.2:n.962+34dup
ENST00000436216.1:c.330+34dup
ENST00000437196.1:c.73+923dup ENSP00000407299.1:n.73+923dup
NM_000127.2:c.962+34dup , LRG_493t1:c.962+34dup NP_000118.2:n.962+34dup
NM_000127.3:c.962+34dup MANE Select NP_000118.2:n.962+34dup
Search 100 bp 5'
Search 100 bp 3'