Canonical Allele Identifier: CA2688346682
Gene: EXT1 HGNC NCBI

Linked Data

gnomAD v4: 8-117835563-AG-A
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.117835567del , CM000670.2:g.117835567del GRCh38
NC_000008.10:g.118847806del , CM000670.1:g.118847806del GRCh37
NC_000008.9:g.118916987del NCBI36
NG_007455.2:g.281256del , LRG_493:g.281256del

Transcript Alleles

HGVS Amino-acid Change
ENST00000684189.1:n.524-13del
ENST00000378204.7:c.1057-13del MANE Select ENSP00000367446.3:n.1057-13del
ENST00000436216.2:c.425-13del
ENST00000378204.6:c.1057-13del ENSP00000367446.2:n.1057-13del
ENST00000436216.1:c.425-13del
ENST00000437196.1:c.74-13del ENSP00000407299.1:n.74-13del
NM_000127.2:c.1057-13del , LRG_493t1:c.1057-13del NP_000118.2:n.1057-13del
NM_000127.3:c.1057-13del MANE Select NP_000118.2:n.1057-13del
Search 100 bp 5'
Search 100 bp 3'