Canonical Allele Identifier: CA1555784457

Gene: GFM2 HEXB

Linked Data

• dbSNP Id: rs1749908576

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.74721947_74721948insAAATACCC , CM000667.2:g.74721947_74721948insAAATACCC	GRCh38
NC_000005.9:g.74017772_74017773insAAATACCC , CM000667.1:g.74017772_74017773insAAATACCC	GRCh37
NC_000005.8:g.74053528_74053529insAAATACCC	NCBI36
NG_009770.1:g.41804_41805insAAATACCC
NG_011531.1:g.50270_50271insGGGTATTT
NG_009770.2:g.86925_86926insAAATACCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296805.8:c.2212-165_2212-164insGGGTATTT (GFM2) MANE Select	ENSP00000296805.3:n.2212-165_2212-164insGGGTATTT
ENST00000296805.7:c.2212-165_2212-164insGGGTATTT (GFM2)	ENSP00000296805.3:n.2212-165_2212-164insGGGTATTT
ENST00000345239.6:c.2071-165_2071-164insGGGTATTT (GFM2)	ENSP00000296804.3:n.2071-165_2071-164insGGGTATTT
ENST00000503312.5:c.608+511_608+512insAAATACCC (HEXB)
ENST00000505859.1:c.256-352_256-351insAAATACCC (HEXB)
ENST00000509430.5:c.2212-165_2212-164insGGGTATTT (GFM2)	ENSP00000427004.1:n.2212-165_2212-164insGGGTATTT
ENST00000513867.1:n.381-352_381-351insAAATACCC (HEXB)
ENST00000515125.5:n.615-165_615-164insGGGTATTT (GFM2)
NM_001281302.1:c.2308-165_2308-164insGGGTATTT (GFM2)	NP_001268231.1:n.2308-165_2308-164insGGGTATTT
NM_032380.4:c.2212-165_2212-164insGGGTATTT (GFM2)	NP_115756.2:n.2212-165_2212-164insGGGTATTT
NM_170691.2:c.2071-165_2071-164insGGGTATTT (GFM2)	NP_733792.1:n.2071-165_2071-164insGGGTATTT
NR_104006.1:n.2531-165_2531-164insGGGTATTT (GFM2)
XM_006714721.2:c.2077-165_2077-164insGGGTATTT (GFM2)	XP_006714784.1:n.2077-165_2077-164insGGGTATTT
XM_011543690.1:c.2212-165_2212-164insGGGTATTT (GFM2)	XP_011541992.1:n.2212-165_2212-164insGGGTATTT
XM_017009986.1:c.2212-165_2212-164insGGGTATTT (GFM2)	XP_016865475.1:n.2212-165_2212-164insGGGTATTT
XR_002956185.1:n.3498-165_3498-164insGGGTATTT (GFM2)
NM_032380.5:c.2212-165_2212-164insGGGTATTT (GFM2) MANE Select	NP_115756.2:n.2212-165_2212-164insGGGTATTT
NM_001281302.2:c.2308-165_2308-164insGGGTATTT (GFM2)	NP_001268231.1:n.2308-165_2308-164insGGGTATTT
NM_170691.3:c.2071-165_2071-164insGGGTATTT (GFM2)	NP_733792.1:n.2071-165_2071-164insGGGTATTT
NR_104006.2:n.2277-165_2277-164insGGGTATTT (GFM2)