Canonical Allele Identifier: CA2695210044

Gene: EXT1

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.117837191_117837197del , CM000670.2:g.117837191_117837197del	GRCh38
NC_000008.10:g.118849430_118849436del , CM000670.1:g.118849430_118849436del	GRCh37
NC_000008.9:g.118918611_118918617del	NCBI36
NG_007455.2:g.279624_279630del , LRG_493:g.279624_279630del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684189.1:n.435_441del
ENST00000378204.7:c.968_974del MANE Select	ENSP00000367446.3:p.Asp323GlyfsTer?
ENST00000436216.2:c.336_342del
ENST00000378204.6:c.968_974del	ENSP00000367446.2:p.Asp323GlyfsTer?
ENST00000436216.1:c.336_342del
ENST00000437196.1:c.74-1645_74-1639del	ENSP00000407299.1:n.74-1645_74-1639del
NM_000127.2:c.968_974del , LRG_493t1:c.968_974del	NP_000118.2:p.Asp323GlyfsTer?
NM_000127.3:c.968_974del MANE Select	NP_000118.2:p.Asp323GlyfsTer?