Canonical Allele Identifier: CA2695213853

Gene: EXT2

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.44124869_44124870del , CM000673.2:g.44124869_44124870del	GRCh38
NC_000011.9:g.44146419_44146420del , CM000673.1:g.44146419_44146420del	GRCh37
NC_000011.8:g.44102995_44102996del	NCBI36
NG_007560.1:g.34321_34322del , LRG_494:g.34321_34322del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000343631.4:c.824_825del	ENSP00000342656.3:p.Lys275ThrfsTer10
ENST00000395673.8:c.824_825del	ENSP00000379032.4:p.Lys275ThrfsTer10
ENST00000531161.6:n.983_984del
ENST00000682359.1:c.824_825del	ENSP00000508226.1:p.Lys275ThrfsTer10
ENST00000682711.1:c.-544+29017_-544+29018del	ENSP00000506803.1:n.-544+29017_-544+29018del
ENST00000682815.1:c.824_825del	ENSP00000507234.1:p.Lys275ThrfsTer10
ENST00000682947.1:n.998_999del
ENST00000682993.1:c.824_825del	ENSP00000507580.1:p.Lys275ThrfsTer10
ENST00000683000.1:c.824_825del	ENSP00000508361.1:p.Lys275ThrfsTer10
ENST00000683299.1:n.1241_1242del
ENST00000683870.1:c.824_825del	ENSP00000507922.1:p.Lys275ThrfsTer10
ENST00000683881.1:n.3385_3386del
ENST00000684039.1:c.824_825del	ENSP00000507677.1:p.Lys275ThrfsTer10
ENST00000684124.1:c.824_825del	ENSP00000508332.1:p.Lys275ThrfsTer10
ENST00000684533.1:c.744-5176_744-5175del	ENSP00000507915.1:n.744-5176_744-5175del
ENST00000533608.7:c.824_825del MANE Select	ENSP00000431173.2:p.Lys275ThrfsTer10
ENST00000343631.3:c.824_825del	ENSP00000342656.3:p.Lys275ThrfsTer10
ENST00000358681.8:c.824_825del	ENSP00000351509.4:p.Lys275ThrfsTer10
ENST00000395673.7:c.923_924del	ENSP00000379032.3:p.Lys308ThrfsTer10
ENST00000533608.5:c.824_825del	ENSP00000431173.1:p.Lys275ThrfsTer10
NM_000401.3:c.923_924del , LRG_494t1:c.923_924del	NP_000392.3:p.Lys308ThrfsTer10
NM_001178083.1:c.824_825del	NP_001171554.1:p.Lys275ThrfsTer10
NM_207122.1:c.824_825del , LRG_494t2:c.824_825del	NP_997005.1:p.Lys275ThrfsTer10
XM_011519950.1:c.962_963del	XP_011518252.1:p.Lys321ThrfsTer10
XM_011519951.1:c.863_864del	XP_011518253.1:p.Lys288ThrfsTer10
XM_024448383.1:c.962_963del	XP_024304151.1:p.Lys321ThrfsTer10
NM_001178083.2:c.824_825del	NP_001171554.1:p.Lys275ThrfsTer10
NM_207122.2:c.824_825del MANE Select	NP_997005.1:p.Lys275ThrfsTer10
NM_001178083.3:c.824_825del	NP_001171554.1:p.Lys275ThrfsTer10
NM_001389628.1:c.824_825del	NP_001376557.1:p.Lys275ThrfsTer10
NM_001389630.1:c.824_825del	NP_001376559.1:p.Lys275ThrfsTer10