Canonical Allele Identifier: CA2674242458

Gene: GFM2 HEXB

Linked Data

• gnomAD v4: 5-74721873-G-GA

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.74721873_74721874insA , CM000667.2:g.74721873_74721874insA	GRCh38
NC_000005.9:g.74017698_74017699insA , CM000667.1:g.74017698_74017699insA	GRCh37
NC_000005.8:g.74053454_74053455insA	NCBI36
NG_009770.1:g.41730_41731insA
NG_011531.1:g.50344_50345insT
NG_009770.2:g.86851_86852insA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296805.8:c.2212-91_2212-90insT (GFM2) MANE Select	ENSP00000296805.3:n.2212-91_2212-90insT
ENST00000296805.7:c.2212-91_2212-90insT (GFM2)	ENSP00000296805.3:n.2212-91_2212-90insT
ENST00000345239.6:c.2071-91_2071-90insT (GFM2)	ENSP00000296804.3:n.2071-91_2071-90insT
ENST00000503312.5:c.608+437_608+438insA (HEXB)
ENST00000505859.1:c.256-426_256-425insA (HEXB)
ENST00000509430.5:c.2212-91_2212-90insT (GFM2)	ENSP00000427004.1:n.2212-91_2212-90insT
ENST00000513867.1:n.381-426_381-425insA (HEXB)
ENST00000515125.5:n.615-91_615-90insT (GFM2)
NM_001281302.1:c.2308-91_2308-90insT (GFM2)	NP_001268231.1:n.2308-91_2308-90insT
NM_032380.4:c.2212-91_2212-90insT (GFM2)	NP_115756.2:n.2212-91_2212-90insT
NM_170691.2:c.2071-91_2071-90insT (GFM2)	NP_733792.1:n.2071-91_2071-90insT
NR_104006.1:n.2531-91_2531-90insT (GFM2)
XM_006714721.2:c.2077-91_2077-90insT (GFM2)	XP_006714784.1:n.2077-91_2077-90insT
XM_011543690.1:c.2212-91_2212-90insT (GFM2)	XP_011541992.1:n.2212-91_2212-90insT
XM_017009986.1:c.2212-91_2212-90insT (GFM2)	XP_016865475.1:n.2212-91_2212-90insT
XR_002956185.1:n.3498-91_3498-90insT (GFM2)
NM_032380.5:c.2212-91_2212-90insT (GFM2) MANE Select	NP_115756.2:n.2212-91_2212-90insT
NM_001281302.2:c.2308-91_2308-90insT (GFM2)	NP_001268231.1:n.2308-91_2308-90insT
NM_170691.3:c.2071-91_2071-90insT (GFM2)	NP_733792.1:n.2071-91_2071-90insT
NR_104006.2:n.2277-91_2277-90insT (GFM2)