Canonical Allele Identifier: CA1555784385

Gene: GFM2 HEXB

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.74721786_74721788delinsAAT , CM000667.2:g.74721786_74721788delinsAAT	GRCh38
NC_000005.9:g.74017611_74017613delinsAAT , CM000667.1:g.74017611_74017613delinsAAT	GRCh37
NC_000005.8:g.74053367_74053369delinsAAT	NCBI36
NG_009770.1:g.41643_41645delinsAAT
NG_011531.1:g.50430_50432delinsATT
NG_009770.2:g.86764_86766delinsAAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296805.8:c.2212-5_2212-3delinsATT (GFM2) MANE Select	ENSP00000296805.3:n.2212-5_2212-3delinsATT
ENST00000296805.7:c.2212-5_2212-3delinsATT (GFM2)	ENSP00000296805.3:n.2212-5_2212-3delinsATT
ENST00000345239.6:c.2071-5_2071-3delinsATT (GFM2)	ENSP00000296804.3:n.2071-5_2071-3delinsATT
ENST00000503312.5:c.608+350_608+352delinsAAT (HEXB)
ENST00000505859.1:c.255+350_255+352delinsAAT (HEXB)
ENST00000509430.5:c.2212-5_2212-3delinsATT (GFM2)	ENSP00000427004.1:n.2212-5_2212-3delinsATT
ENST00000513867.1:n.380+350_380+352delinsAAT (HEXB)
ENST00000515125.5:n.615-5_615-3delinsATT (GFM2)
NM_001281302.1:c.2308-5_2308-3delinsATT (GFM2)	NP_001268231.1:n.2308-5_2308-3delinsATT
NM_032380.4:c.2212-5_2212-3delinsATT (GFM2)	NP_115756.2:n.2212-5_2212-3delinsATT
NM_170691.2:c.2071-5_2071-3delinsATT (GFM2)	NP_733792.1:n.2071-5_2071-3delinsATT
NR_104006.1:n.2531-5_2531-3delinsATT (GFM2)
XM_006714721.2:c.2077-5_2077-3delinsATT (GFM2)	XP_006714784.1:n.2077-5_2077-3delinsATT
XM_011543690.1:c.2212-5_2212-3delinsATT (GFM2)	XP_011541992.1:n.2212-5_2212-3delinsATT
XM_017009986.1:c.2212-5_2212-3delinsATT (GFM2)	XP_016865475.1:n.2212-5_2212-3delinsATT
XR_002956185.1:n.3498-5_3498-3delinsATT (GFM2)
NM_032380.5:c.2212-5_2212-3delinsATT (GFM2) MANE Select	NP_115756.2:n.2212-5_2212-3delinsATT
NM_001281302.2:c.2308-5_2308-3delinsATT (GFM2)	NP_001268231.1:n.2308-5_2308-3delinsATT
NM_170691.3:c.2071-5_2071-3delinsATT (GFM2)	NP_733792.1:n.2071-5_2071-3delinsATT
NR_104006.2:n.2277-5_2277-3delinsATT (GFM2)