Canonical Allele Identifier: CA1555784345

Gene: GFM2 HEXB

Linked Data

• dbSNP Id: rs1749891995

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.74721723_74721743del , CM000667.2:g.74721723_74721743del	GRCh38
NC_000005.9:g.74017548_74017568del , CM000667.1:g.74017548_74017568del	GRCh37
NC_000005.8:g.74053304_74053324del	NCBI36
NG_009770.1:g.41580_41600del
NG_011531.1:g.50481_50501del
NG_009770.2:g.86701_86721del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296805.8:c.2258_2278del (GFM2) MANE Select	ENSP00000296805.3:p.Phe753_Thr759del
ENST00000296805.7:c.2258_2278del (GFM2)	ENSP00000296805.3:p.Phe753_Thr759del
ENST00000345239.6:c.2117_2137del (GFM2)	ENSP00000296804.3:p.Phe706_Thr712del
ENST00000503312.5:c.608+287_608+307del (HEXB)
ENST00000505859.1:c.255+287_255+307del (HEXB)
ENST00000509430.5:c.2258_2278del (GFM2)	ENSP00000427004.1:p.Phe753_Thr759del
ENST00000513867.1:n.380+287_380+307del (HEXB)
ENST00000515125.5:n.661_681del (GFM2)
NM_001281302.1:c.2354_2374del (GFM2)	NP_001268231.1:p.Phe785_Thr791del
NM_032380.4:c.2258_2278del (GFM2)	NP_115756.2:p.Phe753_Thr759del
NM_170691.2:c.2117_2137del (GFM2)	NP_733792.1:p.Phe706_Thr712del
NR_104006.1:n.2577_2597del (GFM2)
XM_006714721.2:c.2123_2143del (GFM2)	XP_006714784.1:p.Phe708_Thr714del
XM_011543690.1:c.2258_2278del (GFM2)	XP_011541992.1:p.Phe753_Thr759del
XM_017009986.1:c.2258_2278del (GFM2)	XP_016865475.1:p.Phe753_Thr759del
XR_002956185.1:n.3544_3564del (GFM2)
NM_032380.5:c.2258_2278del (GFM2) MANE Select	NP_115756.2:p.Phe753_Thr759del
NM_001281302.2:c.2354_2374del (GFM2)	NP_001268231.1:p.Phe785_Thr791del
NM_170691.3:c.2117_2137del (GFM2)	NP_733792.1:p.Phe706_Thr712del
NR_104006.2:n.2323_2343del (GFM2)