Canonical Allele Identifier: CA2695210150

Gene: EXT1

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.118110243_118110244insA , CM000670.2:g.118110243_118110244insA	GRCh38
NC_000008.10:g.119122482_119122483insA , CM000670.1:g.119122482_119122483insA	GRCh37
NC_000008.9:g.119191663_119191664insA	NCBI36
NG_007455.2:g.6576_6577insT , LRG_493:g.6576_6577insT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378204.7:c.803_804insT MANE Select	ENSP00000367446.3:p.Lys269GlufsTer20
ENST00000436216.2:c.171_172insT
ENST00000378204.6:c.803_804insT	ENSP00000367446.2:p.Lys269GlufsTer20
ENST00000436216.1:c.171_172insT
ENST00000437196.1:c.73+730_73+731insT	ENSP00000407299.1:n.73+730_73+731insT
NM_000127.2:c.803_804insT , LRG_493t1:c.803_804insT	NP_000118.2:p.Lys269GlufsTer20
NM_000127.3:c.803_804insT MANE Select	NP_000118.2:p.Lys269GlufsTer20