Canonical Allele Identifier: CA2695210027

Gene: EXT1

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.117835449del , CM000670.2:g.117835449del	GRCh38
NC_000008.10:g.118847688del , CM000670.1:g.118847688del	GRCh37
NC_000008.9:g.118916869del	NCBI36
NG_007455.2:g.281372del , LRG_493:g.281372del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684189.1:n.627del
ENST00000378204.7:c.1160del MANE Select	ENSP00000367446.3:p.Leu387TyrfsTer16
ENST00000436216.2:c.528del
ENST00000378204.6:c.1160del	ENSP00000367446.2:p.Leu387TyrfsTer16
ENST00000436216.1:c.528del
ENST00000437196.1:c.*51del	ENSP00000407299.1:n.*51del
NM_000127.2:c.1160del , LRG_493t1:c.1160del	NP_000118.2:p.Leu387TyrfsTer16
NM_000127.3:c.1160del MANE Select	NP_000118.2:p.Leu387TyrfsTer16