Canonical Allele Identifier: CA2613201406

Gene: EXT2

Linked Data

• gnomAD v4: 11-44108051-GTACGTGGAT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.44108052_44108060del , CM000673.2:g.44108052_44108060del	GRCh38
NC_000011.9:g.44129602_44129610del , CM000673.1:g.44129602_44129610del	GRCh37
NC_000011.8:g.44086178_44086186del	NCBI36
NG_007560.1:g.17504_17512del , LRG_494:g.17504_17512del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000343631.4:c.340_348del	ENSP00000342656.3:p.Tyr114_Asp116del
ENST00000395673.8:c.340_348del	ENSP00000379032.4:p.Tyr114_Asp116del
ENST00000531161.6:n.499_507del
ENST00000682359.1:c.340_348del	ENSP00000508226.1:p.Tyr114_Asp116del
ENST00000682711.1:c.-544+12200_-544+12208del	ENSP00000506803.1:n.-544+12200_-544+12208del
ENST00000682815.1:c.340_348del	ENSP00000507234.1:p.Tyr114_Asp116del
ENST00000682947.1:n.514_522del
ENST00000682993.1:c.340_348del	ENSP00000507580.1:p.Tyr114_Asp116del
ENST00000683000.1:c.340_348del	ENSP00000508361.1:p.Tyr114_Asp116del
ENST00000683299.1:n.757_765del
ENST00000683870.1:c.340_348del	ENSP00000507922.1:p.Tyr114_Asp116del
ENST00000683881.1:n.2901_2909del
ENST00000684039.1:c.340_348del	ENSP00000507677.1:p.Tyr114_Asp116del
ENST00000684124.1:c.340_348del	ENSP00000508332.1:p.Tyr114_Asp116del
ENST00000684533.1:c.340_348del	ENSP00000507915.1:p.Tyr114_Asp116del
ENST00000533608.7:c.340_348del MANE Select	ENSP00000431173.2:p.Tyr114_Asp116del
ENST00000343631.3:c.340_348del	ENSP00000342656.3:p.Tyr114_Asp116del
ENST00000358681.8:c.340_348del	ENSP00000351509.4:p.Tyr114_Asp116del
ENST00000395673.7:c.439_447del	ENSP00000379032.3:p.Tyr147_Asp149del
ENST00000529186.1:n.38_46del
ENST00000533608.5:c.340_348del	ENSP00000431173.1:p.Tyr114_Asp116del
NM_000401.3:c.439_447del , LRG_494t1:c.439_447del	NP_000392.3:p.Tyr147_Asp149del
NM_001178083.1:c.340_348del	NP_001171554.1:p.Tyr114_Asp116del
NM_207122.1:c.340_348del , LRG_494t2:c.340_348del	NP_997005.1:p.Tyr114_Asp116del
XM_011519950.1:c.478_486del	XP_011518252.1:p.Tyr160_Asp162del
XM_011519951.1:c.379_387del	XP_011518253.1:p.Tyr127_Asp129del
XM_024448383.1:c.478_486del	XP_024304151.1:p.Tyr160_Asp162del
NM_001178083.2:c.340_348del	NP_001171554.1:p.Tyr114_Asp116del
NM_207122.2:c.340_348del MANE Select	NP_997005.1:p.Tyr114_Asp116del
NM_001178083.3:c.340_348del	NP_001171554.1:p.Tyr114_Asp116del
NM_001389628.1:c.340_348del	NP_001376557.1:p.Tyr114_Asp116del
NM_001389630.1:c.340_348del	NP_001376559.1:p.Tyr114_Asp116del