Canonical Allele Identifier: CA2767029905

Gene: GFM2 HEXB

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.74721787_74721788insCA , CM000667.2:g.74721787_74721788insCA	GRCh38
NC_000005.9:g.74017612_74017613insCA , CM000667.1:g.74017612_74017613insCA	GRCh37
NC_000005.8:g.74053368_74053369insCA	NCBI36
NG_009770.1:g.41644_41645insCA
NG_011531.1:g.50431_50432insGT
NG_009770.2:g.86765_86766insCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296805.8:c.2212-4_2212-3insGT (GFM2) MANE Select	ENSP00000296805.3:n.2212-4_2212-3insGT
ENST00000296805.7:c.2212-4_2212-3insGT (GFM2)	ENSP00000296805.3:n.2212-4_2212-3insGT
ENST00000345239.6:c.2071-4_2071-3insGT (GFM2)	ENSP00000296804.3:n.2071-4_2071-3insGT
ENST00000503312.5:c.608+351_608+352insCA (HEXB)
ENST00000505859.1:c.255+351_255+352insCA (HEXB)
ENST00000509430.5:c.2212-4_2212-3insGT (GFM2)	ENSP00000427004.1:n.2212-4_2212-3insGT
ENST00000513867.1:n.380+351_380+352insCA (HEXB)
ENST00000515125.5:n.615-4_615-3insGT (GFM2)
NM_001281302.1:c.2308-4_2308-3insGT (GFM2)	NP_001268231.1:n.2308-4_2308-3insGT
NM_032380.4:c.2212-4_2212-3insGT (GFM2)	NP_115756.2:n.2212-4_2212-3insGT
NM_170691.2:c.2071-4_2071-3insGT (GFM2)	NP_733792.1:n.2071-4_2071-3insGT
NR_104006.1:n.2531-4_2531-3insGT (GFM2)
XM_006714721.2:c.2077-4_2077-3insGT (GFM2)	XP_006714784.1:n.2077-4_2077-3insGT
XM_011543690.1:c.2212-4_2212-3insGT (GFM2)	XP_011541992.1:n.2212-4_2212-3insGT
XM_017009986.1:c.2212-4_2212-3insGT (GFM2)	XP_016865475.1:n.2212-4_2212-3insGT
XR_002956185.1:n.3498-4_3498-3insGT (GFM2)
NM_032380.5:c.2212-4_2212-3insGT (GFM2) MANE Select	NP_115756.2:n.2212-4_2212-3insGT
NM_001281302.2:c.2308-4_2308-3insGT (GFM2)	NP_001268231.1:n.2308-4_2308-3insGT
NM_170691.3:c.2071-4_2071-3insGT (GFM2)	NP_733792.1:n.2071-4_2071-3insGT
NR_104006.2:n.2277-4_2277-3insGT (GFM2)