Canonical Allele Identifier: CA2688347371
Gene: EXT1 HGNC NCBI

Linked Data

gnomAD v4: 8-118111456-GA-G
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.118111460del , CM000670.2:g.118111460del GRCh38
NC_000008.10:g.119123699del , CM000670.1:g.119123699del GRCh37
NC_000008.9:g.119192880del NCBI36
NG_007455.2:g.5363del , LRG_493:g.5363del

Transcript Alleles

HGVS Amino-acid Change
ENST00000378204.7:c.-411del MANE Select ENSP00000367446.3:n.-411del
ENST00000378204.6:c.-411del ENSP00000367446.2:n.-411del
NM_000127.2:c.-411del , LRG_493t1:c.-411del NP_000118.2:n.-411del
NM_000127.3:c.-411del MANE Select NP_000118.2:n.-411del
Search 100 bp 5'
Search 100 bp 3'