Canonical Allele Identifier: CA2695210109

Gene: EXT1

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.117807307_117807308dup , CM000670.2:g.117807307_117807308dup	GRCh38
NC_000008.10:g.118819546_118819547dup , CM000670.1:g.118819546_118819547dup	GRCh37
NC_000008.9:g.118888727_118888728dup	NCBI36
NG_007455.2:g.309512_309513dup , LRG_493:g.309512_309513dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684189.1:n.1259_1260dup
ENST00000378204.7:c.1792_1793dup MANE Select	ENSP00000367446.3:p.Trp599SerfsTer23
ENST00000378204.6:c.1792_1793dup	ENSP00000367446.2:p.Trp599SerfsTer23
ENST00000437196.1:c.*683_*684dup	ENSP00000407299.1:n.*683_*684dup
NM_000127.2:c.1792_1793dup , LRG_493t1:c.1792_1793dup	NP_000118.2:p.Trp599SerfsTer23
NM_000127.3:c.1792_1793dup MANE Select	NP_000118.2:p.Trp599SerfsTer23