Canonical Allele Identifier: CA2781902056

Gene: EXT1

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.117835559_117835563dup , CM000670.2:g.117835559_117835563dup	GRCh38
NC_000008.10:g.118847798_118847802dup , CM000670.1:g.118847798_118847802dup	GRCh37
NC_000008.9:g.118916979_118916983dup	NCBI36
NG_007455.2:g.281258_281262dup , LRG_493:g.281258_281262dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684189.1:n.524-11_524-7dup
ENST00000378204.7:c.1057-11_1057-7dup MANE Select	ENSP00000367446.3:n.1057-11_1057-7dup
ENST00000436216.2:c.425-11_425-7dup
ENST00000378204.6:c.1057-11_1057-7dup	ENSP00000367446.2:n.1057-11_1057-7dup
ENST00000436216.1:c.425-11_425-7dup
ENST00000437196.1:c.74-11_74-7dup	ENSP00000407299.1:n.74-11_74-7dup
NM_000127.2:c.1057-11_1057-7dup , LRG_493t1:c.1057-11_1057-7dup	NP_000118.2:n.1057-11_1057-7dup
NM_000127.3:c.1057-11_1057-7dup MANE Select	NP_000118.2:n.1057-11_1057-7dup