Canonical Allele Identifier: CA2695210038

Gene: EXT1

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.117837113_117837115delinsGGAATCAGATT , CM000670.2:g.117837113_117837115delinsGGAATCAGATT	GRCh38
NC_000008.10:g.118849352_118849354delinsGGAATCAGATT , CM000670.1:g.118849352_118849354delinsGGAATCAGATT	GRCh37
NC_000008.9:g.118918533_118918535delinsGGAATCAGATT	NCBI36
NG_007455.2:g.279705_279707delinsAATCTGATTCC , LRG_493:g.279705_279707delinsAATCTGATTCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684189.1:n.516_518delinsAATCTGATTCC
ENST00000378204.7:c.1049_1051delinsAATCTGATTCC MANE Select	ENSP00000367446.3:p.Ala350GlufsTer12
ENST00000436216.2:c.417_419delinsAATCTGATTCC
ENST00000378204.6:c.1049_1051delinsAATCTGATTCC	ENSP00000367446.2:p.Ala350GlufsTer12
ENST00000436216.1:c.417_419delinsAATCTGATTCC
ENST00000437196.1:c.74-1564_74-1562delinsAATCTGATTCC	ENSP00000407299.1:n.74-1564_74-1562delinsAATCTGATTCC
NM_000127.2:c.1049_1051delinsAATCTGATTCC , LRG_493t1:c.1049_1051delinsAATCTGATTCC	NP_000118.2:p.Ala350GlufsTer12
NM_000127.3:c.1049_1051delinsAATCTGATTCC MANE Select	NP_000118.2:p.Ala350GlufsTer12