Canonical Allele Identifier: CA2695210033

Gene: EXT1

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.117835512del , CM000670.2:g.117835512del	GRCh38
NC_000008.10:g.118847751del , CM000670.1:g.118847751del	GRCh37
NC_000008.9:g.118916932del	NCBI36
NG_007455.2:g.281309del , LRG_493:g.281309del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684189.1:n.564del
ENST00000378204.7:c.1097del MANE Select	ENSP00000367446.3:p.Leu366CysfsTer6
ENST00000436216.2:c.465del
ENST00000378204.6:c.1097del	ENSP00000367446.2:p.Leu366CysfsTer6
ENST00000436216.1:c.465del
ENST00000437196.1:c.114del	ENSP00000407299.1:p.Ala39ProfsTer?
NM_000127.2:c.1097del , LRG_493t1:c.1097del	NP_000118.2:p.Leu366CysfsTer6
NM_000127.3:c.1097del MANE Select	NP_000118.2:p.Leu366CysfsTer6