Canonical Allele Identifier: CA2695209983

Gene: EXT1

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.117819780_117819786dup , CM000670.2:g.117819780_117819786dup	GRCh38
NC_000008.10:g.118832019_118832025dup , CM000670.1:g.118832019_118832025dup	GRCh37
NC_000008.9:g.118901200_118901206dup	NCBI36
NG_007455.2:g.297036_297042dup , LRG_493:g.297036_297042dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000684189.1:n.895_901dup
ENST00000378204.7:c.1428_1434dup MANE Select	ENSP00000367446.3:p.Lys479ProfsTer?
ENST00000378204.6:c.1428_1434dup	ENSP00000367446.2:p.Lys479ProfsTer?
ENST00000437196.1:c.*319_*325dup	ENSP00000407299.1:n.*319_*325dup
NM_000127.2:c.1428_1434dup , LRG_493t1:c.1428_1434dup	NP_000118.2:p.Lys479ProfsTer?
NM_000127.3:c.1428_1434dup MANE Select	NP_000118.2:p.Lys479ProfsTer?