Canonical Allele Identifier: CA2695210037

Gene: EXT1

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.117837106dup , CM000670.2:g.117837106dup	GRCh38
NC_000008.10:g.118849345dup , CM000670.1:g.118849345dup	GRCh37
NC_000008.9:g.118918526dup	NCBI36
NG_007455.2:g.279714dup , LRG_493:g.279714dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684189.1:n.523+2dup
ENST00000378204.7:c.1056+2dup MANE Select	ENSP00000367446.3:n.1056+2dup
ENST00000436216.2:c.424+2dup
ENST00000378204.6:c.1056+2dup	ENSP00000367446.2:n.1056+2dup
ENST00000436216.1:c.424+2dup
ENST00000437196.1:c.74-1555dup	ENSP00000407299.1:n.74-1555dup
NM_000127.2:c.1056+2dup , LRG_493t1:c.1056+2dup	NP_000118.2:n.1056+2dup
NM_000127.3:c.1056+2dup MANE Select	NP_000118.2:n.1056+2dup