Canonical Allele Identifier: CA1967876217

Gene: EXT2

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.44108192_44108193delinsTA , CM000673.2:g.44108192_44108193delinsTA	GRCh38
NC_000011.9:g.44129742_44129743delinsTA , CM000673.1:g.44129742_44129743delinsTA	GRCh37
NC_000011.8:g.44086318_44086319delinsTA	NCBI36
NG_007560.1:g.17644_17645delinsTA , LRG_494:g.17644_17645delinsTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000343631.4:c.480_481delinsTA	ENSP00000342656.3:p.Leu160=
ENST00000395673.8:c.480_481delinsTA	ENSP00000379032.4:p.Leu160=
ENST00000531161.6:n.639_640delinsTA
ENST00000682359.1:c.480_481delinsTA	ENSP00000508226.1:p.Leu160=
ENST00000682711.1:c.-544+12340_-544+12341delinsTA	ENSP00000506803.1:n.-544+12340_-544+12341delinsTA
ENST00000682815.1:c.480_481delinsTA	ENSP00000507234.1:p.Leu160=
ENST00000682947.1:n.654_655delinsTA
ENST00000682993.1:c.480_481delinsTA	ENSP00000507580.1:p.Leu160=
ENST00000683000.1:c.480_481delinsTA	ENSP00000508361.1:p.Leu160=
ENST00000683299.1:n.897_898delinsTA
ENST00000683870.1:c.480_481delinsTA	ENSP00000507922.1:p.Leu160=
ENST00000683881.1:n.3041_3042delinsTA
ENST00000684039.1:c.480_481delinsTA	ENSP00000507677.1:p.Leu160=
ENST00000684124.1:c.480_481delinsTA	ENSP00000508332.1:p.Leu160=
ENST00000684533.1:c.480_481delinsTA	ENSP00000507915.1:p.Leu160=
ENST00000533608.7:c.480_481delinsTA MANE Select	ENSP00000431173.2:p.Leu160=
ENST00000343631.3:c.480_481delinsTA	ENSP00000342656.3:p.Leu160=
ENST00000358681.8:c.480_481delinsTA	ENSP00000351509.4:p.Leu160=
ENST00000395673.7:c.579_580delinsTA	ENSP00000379032.3:p.Leu193=
ENST00000529186.1:n.178_179delinsTA
ENST00000533608.5:c.480_481delinsTA	ENSP00000431173.1:p.Leu160=
NM_000401.3:c.579_580delinsTA , LRG_494t1:c.579_580delinsTA	NP_000392.3:p.Leu193=
NM_001178083.1:c.480_481delinsTA	NP_001171554.1:p.Leu160=
NM_207122.1:c.480_481delinsTA , LRG_494t2:c.480_481delinsTA	NP_997005.1:p.Leu160=
XM_011519950.1:c.618_619delinsTA	XP_011518252.1:p.Leu206=
XM_011519951.1:c.519_520delinsTA	XP_011518253.1:p.Leu173=
XM_024448383.1:c.618_619delinsTA	XP_024304151.1:p.Leu206=
NM_001178083.2:c.480_481delinsTA	NP_001171554.1:p.Leu160=
NM_207122.2:c.480_481delinsTA MANE Select	NP_997005.1:p.Leu160=
NM_001178083.3:c.480_481delinsTA	NP_001171554.1:p.Leu160=
NM_001389628.1:c.480_481delinsTA	NP_001376557.1:p.Leu160=
NM_001389630.1:c.480_481delinsTA	NP_001376559.1:p.Leu160=