Canonical Allele Identifier: CA1967876143

Gene: EXT2

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.44108161_44108165delinsCCTGT , CM000673.2:g.44108161_44108165delinsCCTGT	GRCh38
NC_000011.9:g.44129711_44129715delinsCCTGT , CM000673.1:g.44129711_44129715delinsCCTGT	GRCh37
NC_000011.8:g.44086287_44086291delinsCCTGT	NCBI36
NG_007560.1:g.17613_17617delinsCCTGT , LRG_494:g.17613_17617delinsCCTGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000343631.4:c.449_453delinsCCTGT	ENSP00000342656.3:p.Ala150=
ENST00000395673.8:c.449_453delinsCCTGT	ENSP00000379032.4:p.Ala150=
ENST00000531161.6:n.608_612delinsCCTGT
ENST00000682359.1:c.449_453delinsCCTGT	ENSP00000508226.1:p.Ala150=
ENST00000682711.1:c.-544+12309_-544+12313delinsCCTGT	ENSP00000506803.1:n.-544+12309_-544+12313delinsCCTGT
ENST00000682815.1:c.449_453delinsCCTGT	ENSP00000507234.1:p.Ala150=
ENST00000682947.1:n.623_627delinsCCTGT
ENST00000682993.1:c.449_453delinsCCTGT	ENSP00000507580.1:p.Ala150=
ENST00000683000.1:c.449_453delinsCCTGT	ENSP00000508361.1:p.Ala150=
ENST00000683299.1:n.866_870delinsCCTGT
ENST00000683870.1:c.449_453delinsCCTGT	ENSP00000507922.1:p.Ala150=
ENST00000683881.1:n.3010_3014delinsCCTGT
ENST00000684039.1:c.449_453delinsCCTGT	ENSP00000507677.1:p.Ala150=
ENST00000684124.1:c.449_453delinsCCTGT	ENSP00000508332.1:p.Ala150=
ENST00000684533.1:c.449_453delinsCCTGT	ENSP00000507915.1:p.Ala150=
ENST00000533608.7:c.449_453delinsCCTGT MANE Select	ENSP00000431173.2:p.Ala150=
ENST00000343631.3:c.449_453delinsCCTGT	ENSP00000342656.3:p.Ala150=
ENST00000358681.8:c.449_453delinsCCTGT	ENSP00000351509.4:p.Ala150=
ENST00000395673.7:c.548_552delinsCCTGT	ENSP00000379032.3:p.Ala183=
ENST00000529186.1:n.147_151delinsCCTGT
ENST00000533608.5:c.449_453delinsCCTGT	ENSP00000431173.1:p.Ala150=
NM_000401.3:c.548_552delinsCCTGT , LRG_494t1:c.548_552delinsCCTGT	NP_000392.3:p.Ala183=
NM_001178083.1:c.449_453delinsCCTGT	NP_001171554.1:p.Ala150=
NM_207122.1:c.449_453delinsCCTGT , LRG_494t2:c.449_453delinsCCTGT	NP_997005.1:p.Ala150=
XM_011519950.1:c.587_591delinsCCTGT	XP_011518252.1:p.Ala196=
XM_011519951.1:c.488_492delinsCCTGT	XP_011518253.1:p.Ala163=
XM_024448383.1:c.587_591delinsCCTGT	XP_024304151.1:p.Ala196=
NM_001178083.2:c.449_453delinsCCTGT	NP_001171554.1:p.Ala150=
NM_207122.2:c.449_453delinsCCTGT MANE Select	NP_997005.1:p.Ala150=
NM_001178083.3:c.449_453delinsCCTGT	NP_001171554.1:p.Ala150=
NM_001389628.1:c.449_453delinsCCTGT	NP_001376557.1:p.Ala150=
NM_001389630.1:c.449_453delinsCCTGT	NP_001376559.1:p.Ala150=