Canonical Allele Identifier: CA2554483961

Gene: GFM2 HEXB

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.74722034_74722035insCA , CM000667.2:g.74722034_74722035insCA	GRCh38
NC_000005.9:g.74017859_74017860insCA , CM000667.1:g.74017859_74017860insCA	GRCh37
NC_000005.8:g.74053615_74053616insCA	NCBI36
NG_009770.1:g.41891_41892insCA
NG_011531.1:g.50183_50184insTG
NG_009770.2:g.87012_87013insCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296805.8:c.2212-252_2212-251insTG (GFM2) MANE Select	ENSP00000296805.3:n.2212-252_2212-251insTG
ENST00000296805.7:c.2212-252_2212-251insTG (GFM2)	ENSP00000296805.3:n.2212-252_2212-251insTG
ENST00000345239.6:c.2071-252_2071-251insTG (GFM2)	ENSP00000296804.3:n.2071-252_2071-251insTG
ENST00000503312.5:c.609-435_609-434insCA (HEXB)
ENST00000505859.1:c.256-265_256-264insCA (HEXB)
ENST00000509430.5:c.2212-252_2212-251insTG (GFM2)	ENSP00000427004.1:n.2212-252_2212-251insTG
ENST00000513867.1:n.381-265_381-264insCA (HEXB)
ENST00000515125.5:n.615-252_615-251insTG (GFM2)
NM_001281302.1:c.2308-252_2308-251insTG (GFM2)	NP_001268231.1:n.2308-252_2308-251insTG
NM_032380.4:c.2212-252_2212-251insTG (GFM2)	NP_115756.2:n.2212-252_2212-251insTG
NM_170691.2:c.2071-252_2071-251insTG (GFM2)	NP_733792.1:n.2071-252_2071-251insTG
NR_104006.1:n.2531-252_2531-251insTG (GFM2)
XM_006714721.2:c.2077-252_2077-251insTG (GFM2)	XP_006714784.1:n.2077-252_2077-251insTG
XM_011543690.1:c.2212-252_2212-251insTG (GFM2)	XP_011541992.1:n.2212-252_2212-251insTG
XM_017009986.1:c.2212-252_2212-251insTG (GFM2)	XP_016865475.1:n.2212-252_2212-251insTG
XR_002956185.1:n.3498-252_3498-251insTG (GFM2)
NM_032380.5:c.2212-252_2212-251insTG (GFM2) MANE Select	NP_115756.2:n.2212-252_2212-251insTG
NM_001281302.2:c.2308-252_2308-251insTG (GFM2)	NP_001268231.1:n.2308-252_2308-251insTG
NM_170691.3:c.2071-252_2071-251insTG (GFM2)	NP_733792.1:n.2071-252_2071-251insTG
NR_104006.2:n.2277-252_2277-251insTG (GFM2)