Canonical Allele Identifier: CA2674242496

Gene: GFM2 HEXB

Linked Data

• gnomAD v4: 5-74721904-TCACTTCCTC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.74721907_74721915del , CM000667.2:g.74721907_74721915del	GRCh38
NC_000005.9:g.74017732_74017740del , CM000667.1:g.74017732_74017740del	GRCh37
NC_000005.8:g.74053488_74053496del	NCBI36
NG_009770.1:g.41764_41772del
NG_011531.1:g.50305_50313del
NG_009770.2:g.86885_86893del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296805.8:c.2212-130_2212-122del (GFM2) MANE Select	ENSP00000296805.3:n.2212-130_2212-122del
ENST00000296805.7:c.2212-130_2212-122del (GFM2)	ENSP00000296805.3:n.2212-130_2212-122del
ENST00000345239.6:c.2071-130_2071-122del (GFM2)	ENSP00000296804.3:n.2071-130_2071-122del
ENST00000503312.5:c.608+471_608+479del (HEXB)
ENST00000505859.1:c.256-392_256-384del (HEXB)
ENST00000509430.5:c.2212-130_2212-122del (GFM2)	ENSP00000427004.1:n.2212-130_2212-122del
ENST00000513867.1:n.381-392_381-384del (HEXB)
ENST00000515125.5:n.615-130_615-122del (GFM2)
NM_001281302.1:c.2308-130_2308-122del (GFM2)	NP_001268231.1:n.2308-130_2308-122del
NM_032380.4:c.2212-130_2212-122del (GFM2)	NP_115756.2:n.2212-130_2212-122del
NM_170691.2:c.2071-130_2071-122del (GFM2)	NP_733792.1:n.2071-130_2071-122del
NR_104006.1:n.2531-130_2531-122del (GFM2)
XM_006714721.2:c.2077-130_2077-122del (GFM2)	XP_006714784.1:n.2077-130_2077-122del
XM_011543690.1:c.2212-130_2212-122del (GFM2)	XP_011541992.1:n.2212-130_2212-122del
XM_017009986.1:c.2212-130_2212-122del (GFM2)	XP_016865475.1:n.2212-130_2212-122del
XR_002956185.1:n.3498-130_3498-122del (GFM2)
NM_032380.5:c.2212-130_2212-122del (GFM2) MANE Select	NP_115756.2:n.2212-130_2212-122del
NM_001281302.2:c.2308-130_2308-122del (GFM2)	NP_001268231.1:n.2308-130_2308-122del
NM_170691.3:c.2071-130_2071-122del (GFM2)	NP_733792.1:n.2071-130_2071-122del
NR_104006.2:n.2277-130_2277-122del (GFM2)