Canonical Allele Identifier: CA2688347506
Gene: EXT1 HGNC NCBI

Linked Data

gnomAD v4: 8-118111658-CGCGGGGCCGGCCCCCGGGACGCGCGGCGGCCCGGCTGGAGGCGGCGGCGGCGGCGGCGCTGGGTGGCGGCGGCGGCGCGTCCTCCCCGCGG-C
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.118111661_118111751del , CM000670.2:g.118111661_118111751del GRCh38
NC_000008.10:g.119123900_119123990del , CM000670.1:g.119123900_119123990del GRCh37
NC_000008.9:g.119193081_119193171del NCBI36
NG_007455.2:g.5071_5161del , LRG_493:g.5071_5161del

Transcript Alleles

HGVS Amino-acid Change
ENST00000378204.7:c.-703_-613del MANE Select ENSP00000367446.3:n.-703_-613del
ENST00000378204.6:c.-703_-613del ENSP00000367446.2:n.-703_-613del
NM_000127.2:c.-703_-613del , LRG_493t1:c.-703_-613del NP_000118.2:n.-703_-613del
NM_000127.3:c.-703_-613del MANE Select NP_000118.2:n.-703_-613del
Search 100 bp 5'
Search 100 bp 3'