Canonical Allele Identifier: CA2767029907

Gene: GFM2 HEXB

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.74721792_74721793insCACACCCAACAC , CM000667.2:g.74721792_74721793insCACACCCAACAC	GRCh38
NC_000005.9:g.74017617_74017618insCACACCCAACAC , CM000667.1:g.74017617_74017618insCACACCCAACAC	GRCh37
NC_000005.8:g.74053373_74053374insCACACCCAACAC	NCBI36
NG_009770.1:g.41649_41650insCACACCCAACAC
NG_011531.1:g.50425_50426insGTGTTGGGTGTG
NG_009770.2:g.86770_86771insCACACCCAACAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296805.8:c.2212-10_2212-9insGTGTTGGGTGTG (GFM2) MANE Select	ENSP00000296805.3:n.2212-10_2212-9insGTGTTGGGTGTG
ENST00000296805.7:c.2212-10_2212-9insGTGTTGGGTGTG (GFM2)	ENSP00000296805.3:n.2212-10_2212-9insGTGTTGGGTGTG
ENST00000345239.6:c.2071-10_2071-9insGTGTTGGGTGTG (GFM2)	ENSP00000296804.3:n.2071-10_2071-9insGTGTTGGGTGTG
ENST00000503312.5:c.608+356_608+357insCACACCCAACAC (HEXB)
ENST00000505859.1:c.255+356_255+357insCACACCCAACAC (HEXB)
ENST00000509430.5:c.2212-10_2212-9insGTGTTGGGTGTG (GFM2)	ENSP00000427004.1:n.2212-10_2212-9insGTGTTGGGTGTG
ENST00000513867.1:n.380+356_380+357insCACACCCAACAC (HEXB)
ENST00000515125.5:n.615-10_615-9insGTGTTGGGTGTG (GFM2)
NM_001281302.1:c.2308-10_2308-9insGTGTTGGGTGTG (GFM2)	NP_001268231.1:n.2308-10_2308-9insGTGTTGGGTGTG
NM_032380.4:c.2212-10_2212-9insGTGTTGGGTGTG (GFM2)	NP_115756.2:n.2212-10_2212-9insGTGTTGGGTGTG
NM_170691.2:c.2071-10_2071-9insGTGTTGGGTGTG (GFM2)	NP_733792.1:n.2071-10_2071-9insGTGTTGGGTGTG
NR_104006.1:n.2531-10_2531-9insGTGTTGGGTGTG (GFM2)
XM_006714721.2:c.2077-10_2077-9insGTGTTGGGTGTG (GFM2)	XP_006714784.1:n.2077-10_2077-9insGTGTTGGGTGTG
XM_011543690.1:c.2212-10_2212-9insGTGTTGGGTGTG (GFM2)	XP_011541992.1:n.2212-10_2212-9insGTGTTGGGTGTG
XM_017009986.1:c.2212-10_2212-9insGTGTTGGGTGTG (GFM2)	XP_016865475.1:n.2212-10_2212-9insGTGTTGGGTGTG
XR_002956185.1:n.3498-10_3498-9insGTGTTGGGTGTG (GFM2)
NM_032380.5:c.2212-10_2212-9insGTGTTGGGTGTG (GFM2) MANE Select	NP_115756.2:n.2212-10_2212-9insGTGTTGGGTGTG
NM_001281302.2:c.2308-10_2308-9insGTGTTGGGTGTG (GFM2)	NP_001268231.1:n.2308-10_2308-9insGTGTTGGGTGTG
NM_170691.3:c.2071-10_2071-9insGTGTTGGGTGTG (GFM2)	NP_733792.1:n.2071-10_2071-9insGTGTTGGGTGTG
NR_104006.2:n.2277-10_2277-9insGTGTTGGGTGTG (GFM2)