Canonical Allele Identifier: CA1555784397

Gene: GFM2 HEXB

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.74721816_74721817delinsCA , CM000667.2:g.74721816_74721817delinsCA	GRCh38
NC_000005.9:g.74017641_74017642delinsCA , CM000667.1:g.74017641_74017642delinsCA	GRCh37
NC_000005.8:g.74053397_74053398delinsCA	NCBI36
NG_009770.1:g.41673_41674delinsCA
NG_011531.1:g.50401_50402delinsTG
NG_009770.2:g.86794_86795delinsCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296805.8:c.2212-34_2212-33delinsTG (GFM2) MANE Select	ENSP00000296805.3:n.2212-34_2212-33delinsTG
ENST00000296805.7:c.2212-34_2212-33delinsTG (GFM2)	ENSP00000296805.3:n.2212-34_2212-33delinsTG
ENST00000345239.6:c.2071-34_2071-33delinsTG (GFM2)	ENSP00000296804.3:n.2071-34_2071-33delinsTG
ENST00000503312.5:c.608+380_608+381delinsCA (HEXB)
ENST00000505859.1:c.255+380_255+381delinsCA (HEXB)
ENST00000509430.5:c.2212-34_2212-33delinsTG (GFM2)	ENSP00000427004.1:n.2212-34_2212-33delinsTG
ENST00000513867.1:n.380+380_380+381delinsCA (HEXB)
ENST00000515125.5:n.615-34_615-33delinsTG (GFM2)
NM_001281302.1:c.2308-34_2308-33delinsTG (GFM2)	NP_001268231.1:n.2308-34_2308-33delinsTG
NM_032380.4:c.2212-34_2212-33delinsTG (GFM2)	NP_115756.2:n.2212-34_2212-33delinsTG
NM_170691.2:c.2071-34_2071-33delinsTG (GFM2)	NP_733792.1:n.2071-34_2071-33delinsTG
NR_104006.1:n.2531-34_2531-33delinsTG (GFM2)
XM_006714721.2:c.2077-34_2077-33delinsTG (GFM2)	XP_006714784.1:n.2077-34_2077-33delinsTG
XM_011543690.1:c.2212-34_2212-33delinsTG (GFM2)	XP_011541992.1:n.2212-34_2212-33delinsTG
XM_017009986.1:c.2212-34_2212-33delinsTG (GFM2)	XP_016865475.1:n.2212-34_2212-33delinsTG
XR_002956185.1:n.3498-34_3498-33delinsTG (GFM2)
NM_032380.5:c.2212-34_2212-33delinsTG (GFM2) MANE Select	NP_115756.2:n.2212-34_2212-33delinsTG
NM_001281302.2:c.2308-34_2308-33delinsTG (GFM2)	NP_001268231.1:n.2308-34_2308-33delinsTG
NM_170691.3:c.2071-34_2071-33delinsTG (GFM2)	NP_733792.1:n.2071-34_2071-33delinsTG
NR_104006.2:n.2277-34_2277-33delinsTG (GFM2)