Canonical Allele Identifier: CA2688347335
Gene: EXT1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.118111435_118111436insA , CM000670.2:g.118111435_118111436insA GRCh38
NC_000008.10:g.119123674_119123675insA , CM000670.1:g.119123674_119123675insA GRCh37
NC_000008.9:g.119192855_119192856insA NCBI36
NG_007455.2:g.5384_5385insT , LRG_493:g.5384_5385insT

Transcript Alleles

HGVS Amino-acid Change
ENST00000378204.7:c.-390_-389insT MANE Select ENSP00000367446.3:n.-390_-389insT
ENST00000378204.6:c.-390_-389insT ENSP00000367446.2:n.-390_-389insT
NM_000127.2:c.-390_-389insT , LRG_493t1:c.-390_-389insT NP_000118.2:n.-390_-389insT
NM_000127.3:c.-390_-389insT MANE Select NP_000118.2:n.-390_-389insT