Canonical Allele Identifier: CA2791245897

Gene: EXT2

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.44127012_44127013insCCAAACACACCCAACAC , CM000673.2:g.44127012_44127013insCCAAACACACCCAACAC	GRCh38
NC_000011.9:g.44148562_44148563insCCAAACACACCCAACAC , CM000673.1:g.44148562_44148563insCCAAACACACCCAACAC	GRCh37
NC_000011.8:g.44105138_44105139insCCAAACACACCCAACAC	NCBI36
NG_007560.1:g.36464_36465insCCAAACACACCCAACAC , LRG_494:g.36464_36465insCCAAACACACCCAACAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000343631.4:c.1079+57_1079+58insCCAAACACACCCAACAC	ENSP00000342656.3:n.1079+57_1079+58insCCAAACACACCCAACAC
ENST00000395673.8:c.1079+57_1079+58insCCAAACACACCCAACAC	ENSP00000379032.4:n.1079+57_1079+58insCCAAACACACCCAACAC
ENST00000531161.6:n.1238+57_1238+58insCCAAACACACCCAACAC
ENST00000682359.1:c.939+2028_939+2029insCCAAACACACCCAACAC	ENSP00000508226.1:n.939+2028_939+2029insCCAAACACACCCAACAC
ENST00000682711.1:c.-544+31160_-544+31161insCCAAACACACCCAACAC	ENSP00000506803.1:n.-544+31160_-544+31161insCCAAACACACCCAACAC...
ENST00000682815.1:c.1079+57_1079+58insCCAAACACACCCAACAC	ENSP00000507234.1:n.1079+57_1079+58insCCAAACACACCCAACAC
ENST00000682947.1:n.1253+57_1253+58insCCAAACACACCCAACAC
ENST00000682993.1:c.1079+57_1079+58insCCAAACACACCCAACAC	ENSP00000507580.1:n.1079+57_1079+58insCCAAACACACCCAACAC
ENST00000683000.1:c.1079+57_1079+58insCCAAACACACCCAACAC	ENSP00000508361.1:n.1079+57_1079+58insCCAAACACACCCAACAC
ENST00000683299.1:n.1496+57_1496+58insCCAAACACACCCAACAC
ENST00000683870.1:c.1079+57_1079+58insCCAAACACACCCAACAC	ENSP00000507922.1:n.1079+57_1079+58insCCAAACACACCCAACAC
ENST00000683881.1:n.3640+57_3640+58insCCAAACACACCCAACAC
ENST00000684039.1:c.1079+57_1079+58insCCAAACACACCCAACAC	ENSP00000507677.1:n.1079+57_1079+58insCCAAACACACCCAACAC
ENST00000684124.1:c.1079+57_1079+58insCCAAACACACCCAACAC	ENSP00000508332.1:n.1079+57_1079+58insCCAAACACACCCAACAC
ENST00000684533.1:c.744-3033_744-3032insCCAAACACACCCAACAC	ENSP00000507915.1:n.744-3033_744-3032insCCAAACACACCCAACAC
ENST00000533608.7:c.1079+57_1079+58insCCAAACACACCCAACAC MANE Select	ENSP00000431173.2:n.1079+57_1079+58insCCAAACACACCCAACAC
ENST00000343631.3:c.1079+57_1079+58insCCAAACACACCCAACAC	ENSP00000342656.3:n.1079+57_1079+58insCCAAACACACCCAACAC
ENST00000358681.8:c.1079+57_1079+58insCCAAACACACCCAACAC	ENSP00000351509.4:n.1079+57_1079+58insCCAAACACACCCAACAC
ENST00000395673.7:c.1178+57_1178+58insCCAAACACACCCAACAC	ENSP00000379032.3:n.1178+57_1178+58insCCAAACACACCCAACAC
ENST00000525559.1:n.53+57_53+58insCCAAACACACCCAACAC
ENST00000531161.5:n.256+57_256+58insCCAAACACACCCAACAC
ENST00000533608.5:c.1079+57_1079+58insCCAAACACACCCAACAC	ENSP00000431173.1:n.1079+57_1079+58insCCAAACACACCCAACAC
NM_000401.3:c.1178+57_1178+58insCCAAACACACCCAACAC , LRG_494t1:c.1178+57_1178+58insCCAAACACACCCAACAC	NP_000392.3:n.1178+57_1178+58insCCAAACACACCCAACAC
NM_001178083.1:c.1079+57_1079+58insCCAAACACACCCAACAC	NP_001171554.1:n.1079+57_1079+58insCCAAACACACCCAACAC
NM_207122.1:c.1079+57_1079+58insCCAAACACACCCAACAC , LRG_494t2:c.1079+57_1079+58insCCAAACACACCCAACAC	NP_997005.1:n.1079+57_1079+58insCCAAACACACCCAACAC
XM_011519950.1:c.1217+57_1217+58insCCAAACACACCCAACAC	XP_011518252.1:n.1217+57_1217+58insCCAAACACACCCAACAC
XM_011519951.1:c.1118+57_1118+58insCCAAACACACCCAACAC	XP_011518253.1:n.1118+57_1118+58insCCAAACACACCCAACAC
XM_024448383.1:c.1217+57_1217+58insCCAAACACACCCAACAC	XP_024304151.1:n.1217+57_1217+58insCCAAACACACCCAACAC
NM_001178083.2:c.1079+57_1079+58insCCAAACACACCCAACAC	NP_001171554.1:n.1079+57_1079+58insCCAAACACACCCAACAC
NM_207122.2:c.1079+57_1079+58insCCAAACACACCCAACAC MANE Select	NP_997005.1:n.1079+57_1079+58insCCAAACACACCCAACAC
NM_001178083.3:c.1079+57_1079+58insCCAAACACACCCAACAC	NP_001171554.1:n.1079+57_1079+58insCCAAACACACCCAACAC
NM_001389628.1:c.1079+57_1079+58insCCAAACACACCCAACAC	NP_001376557.1:n.1079+57_1079+58insCCAAACACACCCAACAC
NM_001389630.1:c.1079+57_1079+58insCCAAACACACCCAACAC	NP_001376559.1:n.1079+57_1079+58insCCAAACACACCCAACAC