Canonical Allele Identifier: CA813921387

Gene: GFM2 HEXB

Linked Data

• dbSNP Id: rs1280151905
• gnomAD v3: 5-74721836-CTCT-C
• gnomAD v4: 5-74721836-CTCT-C
• MyVariant Identifiers: chr5:g.74017662_74017664del (hg19) ; chr5:g.74721837_74721839del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.74721839_74721841del , CM000667.2:g.74721839_74721841del	GRCh38
NC_000005.9:g.74017664_74017666del , CM000667.1:g.74017664_74017666del	GRCh37
NC_000005.8:g.74053420_74053422del	NCBI36
NG_009770.1:g.41696_41698del
NG_011531.1:g.50379_50381del
NG_009770.2:g.86817_86819del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296805.8:c.2212-56_2212-54del (GFM2) MANE Select	ENSP00000296805.3:n.2212-56_2212-54del
ENST00000296805.7:c.2212-56_2212-54del (GFM2)	ENSP00000296805.3:n.2212-56_2212-54del
ENST00000345239.6:c.2071-56_2071-54del (GFM2)	ENSP00000296804.3:n.2071-56_2071-54del
ENST00000503312.5:c.608+403_608+405del (HEXB)
ENST00000505859.1:c.255+403_255+405del (HEXB)
ENST00000509430.5:c.2212-56_2212-54del (GFM2)	ENSP00000427004.1:n.2212-56_2212-54del
ENST00000513867.1:n.380+403_380+405del (HEXB)
ENST00000515125.5:n.615-56_615-54del (GFM2)
NM_001281302.1:c.2308-56_2308-54del (GFM2)	NP_001268231.1:n.2308-56_2308-54del
NM_032380.4:c.2212-56_2212-54del (GFM2)	NP_115756.2:n.2212-56_2212-54del
NM_170691.2:c.2071-56_2071-54del (GFM2)	NP_733792.1:n.2071-56_2071-54del
NR_104006.1:n.2531-56_2531-54del (GFM2)
XM_006714721.2:c.2077-56_2077-54del (GFM2)	XP_006714784.1:n.2077-56_2077-54del
XM_011543690.1:c.2212-56_2212-54del (GFM2)	XP_011541992.1:n.2212-56_2212-54del
XM_017009986.1:c.2212-56_2212-54del (GFM2)	XP_016865475.1:n.2212-56_2212-54del
XR_002956185.1:n.3498-56_3498-54del (GFM2)
NM_032380.5:c.2212-56_2212-54del (GFM2) MANE Select	NP_115756.2:n.2212-56_2212-54del
NM_001281302.2:c.2308-56_2308-54del (GFM2)	NP_001268231.1:n.2308-56_2308-54del
NM_170691.3:c.2071-56_2071-54del (GFM2)	NP_733792.1:n.2071-56_2071-54del
NR_104006.2:n.2277-56_2277-54del (GFM2)