Canonical Allele Identifier: CA1967875141

Gene: EXT2

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.44107756_44107757delinsTC , CM000673.2:g.44107756_44107757delinsTC	GRCh38
NC_000011.9:g.44129306_44129307delinsTC , CM000673.1:g.44129306_44129307delinsTC	GRCh37
NC_000011.8:g.44085882_44085883delinsTC	NCBI36
NG_007560.1:g.17208_17209delinsTC , LRG_494:g.17208_17209delinsTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000343631.4:c.44_45delinsTC	ENSP00000342656.3:p.Ile15=
ENST00000395673.8:c.44_45delinsTC	ENSP00000379032.4:p.Ile15=
ENST00000531161.6:n.203_204delinsTC
ENST00000682359.1:c.44_45delinsTC	ENSP00000508226.1:p.Ile15=
ENST00000682711.1:c.-544+11904_-544+11905delinsTC	ENSP00000506803.1:n.-544+11904_-544+11905delinsTC
ENST00000682815.1:c.44_45delinsTC	ENSP00000507234.1:p.Ile15=
ENST00000682947.1:n.218_219delinsTC
ENST00000682993.1:c.44_45delinsTC	ENSP00000507580.1:p.Ile15=
ENST00000683000.1:c.44_45delinsTC	ENSP00000508361.1:p.Ile15=
ENST00000683299.1:n.461_462delinsTC
ENST00000683870.1:c.44_45delinsTC	ENSP00000507922.1:p.Ile15=
ENST00000683881.1:n.2605_2606delinsTC
ENST00000684039.1:c.44_45delinsTC	ENSP00000507677.1:p.Ile15=
ENST00000684124.1:c.44_45delinsTC	ENSP00000508332.1:p.Ile15=
ENST00000684533.1:c.44_45delinsTC	ENSP00000507915.1:p.Ile15=
ENST00000533608.7:c.44_45delinsTC MANE Select	ENSP00000431173.2:p.Ile15=
ENST00000343631.3:c.44_45delinsTC	ENSP00000342656.3:p.Ile15=
ENST00000358681.8:c.44_45delinsTC	ENSP00000351509.4:p.Ile15=
ENST00000395673.7:c.143_144delinsTC	ENSP00000379032.3:p.Ile48=
ENST00000527014.1:c.44_45delinsTC	ENSP00000434716.1:p.Ile15=
ENST00000532479.1:c.44_45delinsTC	ENSP00000433827.1:p.Ile15=
ENST00000533608.5:c.44_45delinsTC	ENSP00000431173.1:p.Ile15=
NM_000401.3:c.143_144delinsTC , LRG_494t1:c.143_144delinsTC	NP_000392.3:p.Ile48=
NM_001178083.1:c.44_45delinsTC	NP_001171554.1:p.Ile15=
NM_207122.1:c.44_45delinsTC , LRG_494t2:c.44_45delinsTC	NP_997005.1:p.Ile15=
XM_011519950.1:c.182_183delinsTC	XP_011518252.1:p.Ile61=
XM_011519951.1:c.83_84delinsTC	XP_011518253.1:p.Ile28=
XM_024448383.1:c.182_183delinsTC	XP_024304151.1:p.Ile61=
NM_001178083.2:c.44_45delinsTC	NP_001171554.1:p.Ile15=
NM_207122.2:c.44_45delinsTC MANE Select	NP_997005.1:p.Ile15=
NM_001178083.3:c.44_45delinsTC	NP_001171554.1:p.Ile15=
NM_001389628.1:c.44_45delinsTC	NP_001376557.1:p.Ile15=
NM_001389630.1:c.44_45delinsTC	NP_001376559.1:p.Ile15=