Canonical Allele Identifier: CA937439287

Gene: EXT2

Linked Data

• gnomAD v3: 11-44126858-C-CGTATCATTAAAA
• gnomAD v4: 11-44126858-C-CGTATCATTAAAA

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.44126858_44126859insGTATCATTAAAA , CM000673.2:g.44126858_44126859insGTATCATTAAAA	GRCh38
NC_000011.9:g.44148408_44148409insGTATCATTAAAA , CM000673.1:g.44148408_44148409insGTATCATTAAAA	GRCh37
NC_000011.8:g.44104984_44104985insGTATCATTAAAA	NCBI36
NG_007560.1:g.36310_36311insGTATCATTAAAA , LRG_494:g.36310_36311insGTATCATTAAAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000343631.4:c.982_983insGTATCATTAAAA	ENSP00000342656.3:p.Gln328delinsArgIleIleLysLys
ENST00000395673.8:c.982_983insGTATCATTAAAA	ENSP00000379032.4:p.Gln328delinsArgIleIleLysLys
ENST00000531161.6:n.1141_1142insGTATCATTAAAA
ENST00000682359.1:c.939+1874_939+1875insGTATCATTAAAA	ENSP00000508226.1:n.939+1874_939+1875insGTATCATTAAAA
ENST00000682711.1:c.-544+31006_-544+31007insGTATCATTAAAA	ENSP00000506803.1:n.-544+31006_-544+31007insGTATCATTAAAA
ENST00000682815.1:c.982_983insGTATCATTAAAA	ENSP00000507234.1:p.Gln328delinsArgIleIleLysLys
ENST00000682947.1:n.1156_1157insGTATCATTAAAA
ENST00000682993.1:c.982_983insGTATCATTAAAA	ENSP00000507580.1:p.Gln328delinsArgIleIleLysLys
ENST00000683000.1:c.982_983insGTATCATTAAAA	ENSP00000508361.1:p.Gln328delinsArgIleIleLysLys
ENST00000683299.1:n.1399_1400insGTATCATTAAAA
ENST00000683870.1:c.982_983insGTATCATTAAAA	ENSP00000507922.1:p.Gln328delinsArgIleIleLysLys
ENST00000683881.1:n.3543_3544insGTATCATTAAAA
ENST00000684039.1:c.982_983insGTATCATTAAAA	ENSP00000507677.1:p.Gln328delinsArgIleIleLysLys
ENST00000684124.1:c.982_983insGTATCATTAAAA	ENSP00000508332.1:p.Gln328delinsArgIleIleLysLys
ENST00000684533.1:c.744-3187_744-3186insGTATCATTAAAA	ENSP00000507915.1:n.744-3187_744-3186insGTATCATTAAAA
ENST00000533608.7:c.982_983insGTATCATTAAAA MANE Select	ENSP00000431173.2:p.Gln328delinsArgIleIleLysLys
ENST00000343631.3:c.982_983insGTATCATTAAAA	ENSP00000342656.3:p.Gln328delinsArgIleIleLysLys
ENST00000358681.8:c.982_983insGTATCATTAAAA	ENSP00000351509.4:p.Gln328delinsArgIleIleLysLys
ENST00000395673.7:c.1081_1082insGTATCATTAAAA	ENSP00000379032.3:p.Gln361delinsArgIleIleLysLys
ENST00000531161.5:n.159_160insGTATCATTAAAA
ENST00000533608.5:c.982_983insGTATCATTAAAA	ENSP00000431173.1:p.Gln328delinsArgIleIleLysLys
NM_000401.3:c.1081_1082insGTATCATTAAAA , LRG_494t1:c.1081_1082insGTATCATTAAAA	NP_000392.3:p.Gln361delinsArgIleIleLysLys
NM_001178083.1:c.982_983insGTATCATTAAAA	NP_001171554.1:p.Gln328delinsArgIleIleLysLys
NM_207122.1:c.982_983insGTATCATTAAAA , LRG_494t2:c.982_983insGTATCATTAAAA	NP_997005.1:p.Gln328delinsArgIleIleLysLys
XM_011519950.1:c.1120_1121insGTATCATTAAAA	XP_011518252.1:p.Gln374delinsArgIleIleLysLys
XM_011519951.1:c.1021_1022insGTATCATTAAAA	XP_011518253.1:p.Gln341delinsArgIleIleLysLys
XM_024448383.1:c.1120_1121insGTATCATTAAAA	XP_024304151.1:p.Gln374delinsArgIleIleLysLys
NM_001178083.2:c.982_983insGTATCATTAAAA	NP_001171554.1:p.Gln328delinsArgIleIleLysLys
NM_207122.2:c.982_983insGTATCATTAAAA MANE Select	NP_997005.1:p.Gln328delinsArgIleIleLysLys
NM_001178083.3:c.982_983insGTATCATTAAAA	NP_001171554.1:p.Gln328delinsArgIleIleLysLys
NM_001389628.1:c.982_983insGTATCATTAAAA	NP_001376557.1:p.Gln328delinsArgIleIleLysLys
NM_001389630.1:c.982_983insGTATCATTAAAA	NP_001376559.1:p.Gln328delinsArgIleIleLysLys