Canonical Allele Identifier: CA2578336290

Gene: GFM2 HEXB

Linked Data

• gnomAD v4: 5-74721762-TTCG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.74721763_74721765del , CM000667.2:g.74721763_74721765del	GRCh38
NC_000005.9:g.74017588_74017590del , CM000667.1:g.74017588_74017590del	GRCh37
NC_000005.8:g.74053344_74053346del	NCBI36
NG_009770.1:g.41620_41622del
NG_011531.1:g.50453_50455del
NG_009770.2:g.86741_86743del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296805.8:c.2230_2232del (GFM2) MANE Select	ENSP00000296805.3:p.Arg744del
ENST00000296805.7:c.2230_2232del (GFM2)	ENSP00000296805.3:p.Arg744del
ENST00000345239.6:c.2089_2091del (GFM2)	ENSP00000296804.3:p.Arg697del
ENST00000503312.5:c.608+327_608+329del (HEXB)
ENST00000505859.1:c.255+327_255+329del (HEXB)
ENST00000509430.5:c.2230_2232del (GFM2)	ENSP00000427004.1:p.Arg744del
ENST00000513867.1:n.380+327_380+329del (HEXB)
ENST00000515125.5:n.633_635del (GFM2)
NM_001281302.1:c.2326_2328del (GFM2)	NP_001268231.1:p.Arg776del
NM_032380.4:c.2230_2232del (GFM2)	NP_115756.2:p.Arg744del
NM_170691.2:c.2089_2091del (GFM2)	NP_733792.1:p.Arg697del
NR_104006.1:n.2549_2551del (GFM2)
XM_006714721.2:c.2095_2097del (GFM2)	XP_006714784.1:p.Arg699del
XM_011543690.1:c.2230_2232del (GFM2)	XP_011541992.1:p.Arg744del
XM_017009986.1:c.2230_2232del (GFM2)	XP_016865475.1:p.Arg744del
XR_002956185.1:n.3516_3518del (GFM2)
NM_032380.5:c.2230_2232del (GFM2) MANE Select	NP_115756.2:p.Arg744del
NM_001281302.2:c.2326_2328del (GFM2)	NP_001268231.1:p.Arg776del
NM_170691.3:c.2089_2091del (GFM2)	NP_733792.1:p.Arg697del
NR_104006.2:n.2295_2297del (GFM2)