Canonical Allele Identifier: CA1555784353

Gene: GFM2 HEXB

Linked Data

• dbSNP Id: rs1749892984

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.74721727_74721742del , CM000667.2:g.74721727_74721742del	GRCh38
NC_000005.9:g.74017552_74017567del , CM000667.1:g.74017552_74017567del	GRCh37
NC_000005.8:g.74053308_74053323del	NCBI36
NG_009770.1:g.41584_41599del
NG_011531.1:g.50476_50491del
NG_009770.2:g.86705_86720del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296805.8:c.2253_2268del (GFM2) MANE Select	ENSP00000296805.3:p.Thr752TyrfsTer7
ENST00000296805.7:c.2253_2268del (GFM2)	ENSP00000296805.3:p.Thr752TyrfsTer7
ENST00000345239.6:c.2112_2127del (GFM2)	ENSP00000296804.3:p.Thr705TyrfsTer7
ENST00000503312.5:c.608+291_608+306del (HEXB)
ENST00000505859.1:c.255+291_255+306del (HEXB)
ENST00000509430.5:c.2253_2268del (GFM2)	ENSP00000427004.1:p.Thr752TyrfsTer7
ENST00000513867.1:n.380+291_380+306del (HEXB)
ENST00000515125.5:n.656_671del (GFM2)
NM_001281302.1:c.2349_2364del (GFM2)	NP_001268231.1:p.Thr784TyrfsTer7
NM_032380.4:c.2253_2268del (GFM2)	NP_115756.2:p.Thr752TyrfsTer7
NM_170691.2:c.2112_2127del (GFM2)	NP_733792.1:p.Thr705TyrfsTer7
NR_104006.1:n.2572_2587del (GFM2)
XM_006714721.2:c.2118_2133del (GFM2)	XP_006714784.1:p.Thr707TyrfsTer7
XM_011543690.1:c.2253_2268del (GFM2)	XP_011541992.1:p.Thr752TyrfsTer7
XM_017009986.1:c.2253_2268del (GFM2)	XP_016865475.1:p.Thr752TyrfsTer7
XR_002956185.1:n.3539_3554del (GFM2)
NM_032380.5:c.2253_2268del (GFM2) MANE Select	NP_115756.2:p.Thr752TyrfsTer7
NM_001281302.2:c.2349_2364del (GFM2)	NP_001268231.1:p.Thr784TyrfsTer7
NM_170691.3:c.2112_2127del (GFM2)	NP_733792.1:p.Thr705TyrfsTer7
NR_104006.2:n.2318_2333del (GFM2)