Canonical Allele Identifier: CA2695210031

Gene: EXT1

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.117835507dup , CM000670.2:g.117835507dup	GRCh38
NC_000008.10:g.118847746dup , CM000670.1:g.118847746dup	GRCh37
NC_000008.9:g.118916927dup	NCBI36
NG_007455.2:g.281313dup , LRG_493:g.281313dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684189.1:n.568dup
ENST00000378204.7:c.1101dup MANE Select	ENSP00000367446.3:p.Phe368IlefsTer3
ENST00000436216.2:c.469dup
ENST00000378204.6:c.1101dup	ENSP00000367446.2:p.Phe368IlefsTer3
ENST00000436216.1:c.469dup
ENST00000437196.1:c.118dup	ENSP00000407299.1:p.Ile40AsnfsTer5
NM_000127.2:c.1101dup , LRG_493t1:c.1101dup	NP_000118.2:p.Phe368IlefsTer3
NM_000127.3:c.1101dup MANE Select	NP_000118.2:p.Phe368IlefsTer3