Canonical Allele Identifier: CA916081523

Gene: EXT1

Linked Data

• ClinVar Variation Id: 851459
• ClinVar RCV Id: RCV001055856

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.118108274_118110927del , CM000670.2:g.118108274_118110927del	GRCh38
NC_000008.10:g.119120513_119123166del , CM000670.1:g.119120513_119123166del	GRCh37
NC_000008.9:g.119189694_119192347del	NCBI36
NG_007455.2:g.5897_8550del , LRG_493:g.5897_8550del

Transcript Alleles

HGVS	Amino-acid change
ENST00000378204.7:c.124_962+1815del
ENST00000378204.6:c.124_962+1815del
ENST00000437196.1:c.73+51_73+2704del	ENSP00000407299.1:n.73+51_73+2704del
NM_000127.2:c.124_962+1815del , LRG_493t1:c.124_962+1815del
NM_000127.3:c.124_962+1815del