Canonical Allele Identifier: CA1555784389

Gene: GFM2 HEXB

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.74721796_74721797delinsAT , CM000667.2:g.74721796_74721797delinsAT	GRCh38
NC_000005.9:g.74017621_74017622delinsAT , CM000667.1:g.74017621_74017622delinsAT	GRCh37
NC_000005.8:g.74053377_74053378delinsAT	NCBI36
NG_009770.1:g.41653_41654delinsAT
NG_011531.1:g.50421_50422delinsAT
NG_009770.2:g.86774_86775delinsAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296805.8:c.2212-14_2212-13delinsAT (GFM2) MANE Select	ENSP00000296805.3:n.2212-14_2212-13delinsAT
ENST00000296805.7:c.2212-14_2212-13delinsAT (GFM2)	ENSP00000296805.3:n.2212-14_2212-13delinsAT
ENST00000345239.6:c.2071-14_2071-13delinsAT (GFM2)	ENSP00000296804.3:n.2071-14_2071-13delinsAT
ENST00000503312.5:c.608+360_608+361delinsAT (HEXB)
ENST00000505859.1:c.255+360_255+361delinsAT (HEXB)
ENST00000509430.5:c.2212-14_2212-13delinsAT (GFM2)	ENSP00000427004.1:n.2212-14_2212-13delinsAT
ENST00000513867.1:n.380+360_380+361delinsAT (HEXB)
ENST00000515125.5:n.615-14_615-13delinsAT (GFM2)
NM_001281302.1:c.2308-14_2308-13delinsAT (GFM2)	NP_001268231.1:n.2308-14_2308-13delinsAT
NM_032380.4:c.2212-14_2212-13delinsAT (GFM2)	NP_115756.2:n.2212-14_2212-13delinsAT
NM_170691.2:c.2071-14_2071-13delinsAT (GFM2)	NP_733792.1:n.2071-14_2071-13delinsAT
NR_104006.1:n.2531-14_2531-13delinsAT (GFM2)
XM_006714721.2:c.2077-14_2077-13delinsAT (GFM2)	XP_006714784.1:n.2077-14_2077-13delinsAT
XM_011543690.1:c.2212-14_2212-13delinsAT (GFM2)	XP_011541992.1:n.2212-14_2212-13delinsAT
XM_017009986.1:c.2212-14_2212-13delinsAT (GFM2)	XP_016865475.1:n.2212-14_2212-13delinsAT
XR_002956185.1:n.3498-14_3498-13delinsAT (GFM2)
NM_032380.5:c.2212-14_2212-13delinsAT (GFM2) MANE Select	NP_115756.2:n.2212-14_2212-13delinsAT
NM_001281302.2:c.2308-14_2308-13delinsAT (GFM2)	NP_001268231.1:n.2308-14_2308-13delinsAT
NM_170691.3:c.2071-14_2071-13delinsAT (GFM2)	NP_733792.1:n.2071-14_2071-13delinsAT
NR_104006.2:n.2277-14_2277-13delinsAT (GFM2)