Canonical Allele Identifier: CA2688347610
Gene: EXT1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.118111757del , CM000670.2:g.118111757del GRCh38
NC_000008.10:g.119123996del , CM000670.1:g.119123996del GRCh37
NC_000008.9:g.119193177del NCBI36
NG_007455.2:g.5064del , LRG_493:g.5064del

Transcript Alleles

HGVS Amino-acid Change
ENST00000378204.7:c.-710del MANE Select ENSP00000367446.3:n.-710del
ENST00000378204.6:c.-710del ENSP00000367446.2:n.-710del
NM_000127.2:c.-710del , LRG_493t1:c.-710del NP_000118.2:n.-710del
NM_000127.3:c.-710del MANE Select NP_000118.2:n.-710del