Canonical Allele Identifier: CA2695210112

Gene: EXT1

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.117807342del , CM000670.2:g.117807342del	GRCh38
NC_000008.10:g.118819581del , CM000670.1:g.118819581del	GRCh37
NC_000008.9:g.118888762del	NCBI36
NG_007455.2:g.309478del , LRG_493:g.309478del

Transcript Alleles

HGVS	Amino-acid change
ENST00000684189.1:n.1225del
ENST00000378204.7:c.1758del MANE Select	ENSP00000367446.3:p.Glu587ArgfsTer?
ENST00000378204.6:c.1758del	ENSP00000367446.2:p.Glu587ArgfsTer?
ENST00000437196.1:c.*649del	ENSP00000407299.1:n.*649del
NM_000127.2:c.1758del , LRG_493t1:c.1758del	NP_000118.2:p.Glu587ArgfsTer?
NM_000127.3:c.1758del MANE Select	NP_000118.2:p.Glu587ArgfsTer?