Canonical Allele Identifier: CA2695210111

Gene: EXT1

Linked Data

• ClinVar Variation Id: 2735197
• ClinVar RCV Id: RCV003499951

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.117807320_117807321del , CM000670.2:g.117807320_117807321del	GRCh38
NC_000008.10:g.118819559_118819560del , CM000670.1:g.118819559_118819560del	GRCh37
NC_000008.9:g.118888740_118888741del	NCBI36
NG_007455.2:g.309504_309505del , LRG_493:g.309504_309505del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684189.1:n.1251_1252del
ENST00000378204.7:c.1784_1785del MANE Select	ENSP00000367446.3:p.Arg595GlnfsTer6
ENST00000378204.6:c.1784_1785del	ENSP00000367446.2:p.Arg595GlnfsTer6
ENST00000437196.1:c.*675_*676del	ENSP00000407299.1:n.*675_*676del
NM_000127.2:c.1784_1785del , LRG_493t1:c.1784_1785del	NP_000118.2:p.Arg595GlnfsTer6
NM_000127.3:c.1784_1785del MANE Select	NP_000118.2:p.Arg595GlnfsTer6