Canonical Allele Identifier: CA2537685652

Gene: GFM2 HEXB

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.74722027_74722028insGTTATCATTCTTCT , CM000667.2:g.74722027_74722028insGTTATCATTCTTCT	GRCh38
NC_000005.9:g.74017852_74017853insGTTATCATTCTTCT , CM000667.1:g.74017852_74017853insGTTATCATTCTTCT	GRCh37
NC_000005.8:g.74053608_74053609insGTTATCATTCTTCT	NCBI36
NG_009770.1:g.41884_41885insGTTATCATTCTTCT
NG_011531.1:g.50190_50191insAGAAGAATGATAAC
NG_009770.2:g.87005_87006insGTTATCATTCTTCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296805.8:c.2212-245_2212-244insAGAAGAATGATAAC (GFM2) MANE Select	ENSP00000296805.3:n.2212-245_2212-244insAGAAGAATGATAAC
ENST00000296805.7:c.2212-245_2212-244insAGAAGAATGATAAC (GFM2)	ENSP00000296805.3:n.2212-245_2212-244insAGAAGAATGATAAC
ENST00000345239.6:c.2071-245_2071-244insAGAAGAATGATAAC (GFM2)	ENSP00000296804.3:n.2071-245_2071-244insAGAAGAATGATAAC
ENST00000503312.5:c.609-442_609-441insGTTATCATTCTTCT (HEXB)
ENST00000505859.1:c.256-272_256-271insGTTATCATTCTTCT (HEXB)
ENST00000509430.5:c.2212-245_2212-244insAGAAGAATGATAAC (GFM2)	ENSP00000427004.1:n.2212-245_2212-244insAGAAGAATGATAAC
ENST00000513867.1:n.381-272_381-271insGTTATCATTCTTCT (HEXB)
ENST00000515125.5:n.615-245_615-244insAGAAGAATGATAAC (GFM2)
NM_001281302.1:c.2308-245_2308-244insAGAAGAATGATAAC (GFM2)	NP_001268231.1:n.2308-245_2308-244insAGAAGAATGATAAC
NM_032380.4:c.2212-245_2212-244insAGAAGAATGATAAC (GFM2)	NP_115756.2:n.2212-245_2212-244insAGAAGAATGATAAC
NM_170691.2:c.2071-245_2071-244insAGAAGAATGATAAC (GFM2)	NP_733792.1:n.2071-245_2071-244insAGAAGAATGATAAC
NR_104006.1:n.2531-245_2531-244insAGAAGAATGATAAC (GFM2)
XM_006714721.2:c.2077-245_2077-244insAGAAGAATGATAAC (GFM2)	XP_006714784.1:n.2077-245_2077-244insAGAAGAATGATAAC
XM_011543690.1:c.2212-245_2212-244insAGAAGAATGATAAC (GFM2)	XP_011541992.1:n.2212-245_2212-244insAGAAGAATGATAAC
XM_017009986.1:c.2212-245_2212-244insAGAAGAATGATAAC (GFM2)	XP_016865475.1:n.2212-245_2212-244insAGAAGAATGATAAC
XR_002956185.1:n.3498-245_3498-244insAGAAGAATGATAAC (GFM2)
NM_032380.5:c.2212-245_2212-244insAGAAGAATGATAAC (GFM2) MANE Select	NP_115756.2:n.2212-245_2212-244insAGAAGAATGATAAC
NM_001281302.2:c.2308-245_2308-244insAGAAGAATGATAAC (GFM2)	NP_001268231.1:n.2308-245_2308-244insAGAAGAATGATAAC
NM_170691.3:c.2071-245_2071-244insAGAAGAATGATAAC (GFM2)	NP_733792.1:n.2071-245_2071-244insAGAAGAATGATAAC
NR_104006.2:n.2277-245_2277-244insAGAAGAATGATAAC (GFM2)