Canonical Allele Identifier: CA2688346159
Gene: EXT1 HGNC NCBI

Linked Data

gnomAD v4: 8-117819939-AG-A
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.117819940del , CM000670.2:g.117819940del GRCh38
NC_000008.10:g.118832179del , CM000670.1:g.118832179del GRCh37
NC_000008.9:g.118901360del NCBI36
NG_007455.2:g.296880del , LRG_493:g.296880del

Transcript Alleles

HGVS Amino-acid Change
ENST00000684189.1:n.885-146del
ENST00000378204.7:c.1418-146del MANE Select ENSP00000367446.3:n.1418-146del
ENST00000378204.6:c.1418-146del ENSP00000367446.2:n.1418-146del
ENST00000437196.1:c.*309-146del ENSP00000407299.1:n.*309-146del
NM_000127.2:c.1418-146del , LRG_493t1:c.1418-146del NP_000118.2:n.1418-146del
NM_000127.3:c.1418-146del MANE Select NP_000118.2:n.1418-146del
Search 100 bp 5'
Search 100 bp 3'