Canonical Allele Identifier: CA1555784446

Gene: GFM2 HEXB

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.74721930_74721931delinsCT , CM000667.2:g.74721930_74721931delinsCT	GRCh38
NC_000005.9:g.74017755_74017756delinsCT , CM000667.1:g.74017755_74017756delinsCT	GRCh37
NC_000005.8:g.74053511_74053512delinsCT	NCBI36
NG_009770.1:g.41787_41788delinsCT
NG_011531.1:g.50287_50288delinsAG
NG_009770.2:g.86908_86909delinsCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296805.8:c.2212-148_2212-147delinsAG (GFM2) MANE Select	ENSP00000296805.3:n.2212-148_2212-147delinsAG
ENST00000296805.7:c.2212-148_2212-147delinsAG (GFM2)	ENSP00000296805.3:n.2212-148_2212-147delinsAG
ENST00000345239.6:c.2071-148_2071-147delinsAG (GFM2)	ENSP00000296804.3:n.2071-148_2071-147delinsAG
ENST00000503312.5:c.608+494_608+495delinsCT (HEXB)
ENST00000505859.1:c.256-369_256-368delinsCT (HEXB)
ENST00000509430.5:c.2212-148_2212-147delinsAG (GFM2)	ENSP00000427004.1:n.2212-148_2212-147delinsAG
ENST00000513867.1:n.381-369_381-368delinsCT (HEXB)
ENST00000515125.5:n.615-148_615-147delinsAG (GFM2)
NM_001281302.1:c.2308-148_2308-147delinsAG (GFM2)	NP_001268231.1:n.2308-148_2308-147delinsAG
NM_032380.4:c.2212-148_2212-147delinsAG (GFM2)	NP_115756.2:n.2212-148_2212-147delinsAG
NM_170691.2:c.2071-148_2071-147delinsAG (GFM2)	NP_733792.1:n.2071-148_2071-147delinsAG
NR_104006.1:n.2531-148_2531-147delinsAG (GFM2)
XM_006714721.2:c.2077-148_2077-147delinsAG (GFM2)	XP_006714784.1:n.2077-148_2077-147delinsAG
XM_011543690.1:c.2212-148_2212-147delinsAG (GFM2)	XP_011541992.1:n.2212-148_2212-147delinsAG
XM_017009986.1:c.2212-148_2212-147delinsAG (GFM2)	XP_016865475.1:n.2212-148_2212-147delinsAG
XR_002956185.1:n.3498-148_3498-147delinsAG (GFM2)
NM_032380.5:c.2212-148_2212-147delinsAG (GFM2) MANE Select	NP_115756.2:n.2212-148_2212-147delinsAG
NM_001281302.2:c.2308-148_2308-147delinsAG (GFM2)	NP_001268231.1:n.2308-148_2308-147delinsAG
NM_170691.3:c.2071-148_2071-147delinsAG (GFM2)	NP_733792.1:n.2071-148_2071-147delinsAG
NR_104006.2:n.2277-148_2277-147delinsAG (GFM2)