Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.74721836_74721839delinsCTCT , CM000667.2:g.74721836_74721839delinsCTCT	GRCh38
NC_000005.9:g.74017661_74017664delinsCTCT , CM000667.1:g.74017661_74017664delinsCTCT	GRCh37
NC_000005.8:g.74053417_74053420delinsCTCT	NCBI36
NG_009770.1:g.41693_41696delinsCTCT
NG_011531.1:g.50379_50382delinsAGAG
NG_009770.2:g.86814_86817delinsCTCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296805.8:c.2212-56_2212-53delinsAGAG (GFM2) MANE Select	ENSP00000296805.3:n.2212-56_2212-53delinsAGAG
ENST00000296805.7:c.2212-56_2212-53delinsAGAG (GFM2)	ENSP00000296805.3:n.2212-56_2212-53delinsAGAG
ENST00000345239.6:c.2071-56_2071-53delinsAGAG (GFM2)	ENSP00000296804.3:n.2071-56_2071-53delinsAGAG
ENST00000503312.5:c.608+400_608+403delinsCTCT (HEXB)
ENST00000505859.1:c.255+400_255+403delinsCTCT (HEXB)
ENST00000509430.5:c.2212-56_2212-53delinsAGAG (GFM2)	ENSP00000427004.1:n.2212-56_2212-53delinsAGAG
ENST00000513867.1:n.380+400_380+403delinsCTCT (HEXB)
ENST00000515125.5:n.615-56_615-53delinsAGAG (GFM2)
NM_001281302.1:c.2308-56_2308-53delinsAGAG (GFM2)	NP_001268231.1:n.2308-56_2308-53delinsAGAG
NM_032380.4:c.2212-56_2212-53delinsAGAG (GFM2)	NP_115756.2:n.2212-56_2212-53delinsAGAG
NM_170691.2:c.2071-56_2071-53delinsAGAG (GFM2)	NP_733792.1:n.2071-56_2071-53delinsAGAG
NR_104006.1:n.2531-56_2531-53delinsAGAG (GFM2)
XM_006714721.2:c.2077-56_2077-53delinsAGAG (GFM2)	XP_006714784.1:n.2077-56_2077-53delinsAGAG
XM_011543690.1:c.2212-56_2212-53delinsAGAG (GFM2)	XP_011541992.1:n.2212-56_2212-53delinsAGAG
XM_017009986.1:c.2212-56_2212-53delinsAGAG (GFM2)	XP_016865475.1:n.2212-56_2212-53delinsAGAG
XR_002956185.1:n.3498-56_3498-53delinsAGAG (GFM2)
NM_032380.5:c.2212-56_2212-53delinsAGAG (GFM2) MANE Select	NP_115756.2:n.2212-56_2212-53delinsAGAG
NM_001281302.2:c.2308-56_2308-53delinsAGAG (GFM2)	NP_001268231.1:n.2308-56_2308-53delinsAGAG
NM_170691.3:c.2071-56_2071-53delinsAGAG (GFM2)	NP_733792.1:n.2071-56_2071-53delinsAGAG
NR_104006.2:n.2277-56_2277-53delinsAGAG (GFM2)