Canonical Allele Identifier: CA2695210034

Gene: EXT1

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.117835516_117835517dup , CM000670.2:g.117835516_117835517dup	GRCh38
NC_000008.10:g.118847755_118847756dup , CM000670.1:g.118847755_118847756dup	GRCh37
NC_000008.9:g.118916936_118916937dup	NCBI36
NG_007455.2:g.281304_281305dup , LRG_493:g.281304_281305dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684189.1:n.559_560dup
ENST00000378204.7:c.1092_1093dup MANE Select	ENSP00000367446.3:p.Glu365GlyfsTer8
ENST00000436216.2:c.460_461dup
ENST00000378204.6:c.1092_1093dup	ENSP00000367446.2:p.Glu365GlyfsTer8
ENST00000436216.1:c.460_461dup
ENST00000437196.1:c.109_110dup	ENSP00000407299.1:p.Val38GlufsTer?
NM_000127.2:c.1092_1093dup , LRG_493t1:c.1092_1093dup	NP_000118.2:p.Glu365GlyfsTer8
NM_000127.3:c.1092_1093dup MANE Select	NP_000118.2:p.Glu365GlyfsTer8