Canonical Allele Identifier: CA1555784388

Gene: GFM2 HEXB

Linked Data

• dbSNP Id: rs1749898969

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.74721803_74721825del , CM000667.2:g.74721803_74721825del	GRCh38
NC_000005.9:g.74017628_74017650del , CM000667.1:g.74017628_74017650del	GRCh37
NC_000005.8:g.74053384_74053406del	NCBI36
NG_009770.1:g.41660_41682del
NG_011531.1:g.50401_50423del
NG_009770.2:g.86781_86803del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296805.8:c.2212-34_2212-12del (GFM2) MANE Select	ENSP00000296805.3:n.2212-34_2212-12del
ENST00000296805.7:c.2212-34_2212-12del (GFM2)	ENSP00000296805.3:n.2212-34_2212-12del
ENST00000345239.6:c.2071-34_2071-12del (GFM2)	ENSP00000296804.3:n.2071-34_2071-12del
ENST00000503312.5:c.608+367_608+389del (HEXB)
ENST00000505859.1:c.255+367_255+389del (HEXB)
ENST00000509430.5:c.2212-34_2212-12del (GFM2)	ENSP00000427004.1:n.2212-34_2212-12del
ENST00000513867.1:n.380+367_380+389del (HEXB)
ENST00000515125.5:n.615-34_615-12del (GFM2)
NM_001281302.1:c.2308-34_2308-12del (GFM2)	NP_001268231.1:n.2308-34_2308-12del
NM_032380.4:c.2212-34_2212-12del (GFM2)	NP_115756.2:n.2212-34_2212-12del
NM_170691.2:c.2071-34_2071-12del (GFM2)	NP_733792.1:n.2071-34_2071-12del
NR_104006.1:n.2531-34_2531-12del (GFM2)
XM_006714721.2:c.2077-34_2077-12del (GFM2)	XP_006714784.1:n.2077-34_2077-12del
XM_011543690.1:c.2212-34_2212-12del (GFM2)	XP_011541992.1:n.2212-34_2212-12del
XM_017009986.1:c.2212-34_2212-12del (GFM2)	XP_016865475.1:n.2212-34_2212-12del
XR_002956185.1:n.3498-34_3498-12del (GFM2)
NM_032380.5:c.2212-34_2212-12del (GFM2) MANE Select	NP_115756.2:n.2212-34_2212-12del
NM_001281302.2:c.2308-34_2308-12del (GFM2)	NP_001268231.1:n.2308-34_2308-12del
NM_170691.3:c.2071-34_2071-12del (GFM2)	NP_733792.1:n.2071-34_2071-12del
NR_104006.2:n.2277-34_2277-12del (GFM2)