Canonical Allele Identifier: CA1077558930

Gene: GFM2 HEXB

Linked Data

• dbSNP Id: rs1749883829
• gnomAD v3: 5-74721638-T-TCCAAAAACTAAAACATTTAGGTCAAA
• gnomAD v4: 5-74721638-T-TCCAAAAACTAAAACATTTAGGTCAAA

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.74721642_74721667dup , CM000667.2:g.74721642_74721667dup	GRCh38
NC_000005.9:g.74017467_74017492dup , CM000667.1:g.74017467_74017492dup	GRCh37
NC_000005.8:g.74053223_74053248dup	NCBI36
NG_009770.1:g.41499_41524dup
NG_011531.1:g.50554_50579dup
NG_009770.2:g.86620_86645dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296805.8:c.2331_*16dup (GFM2) MANE Select	ENSP00000296805.3:n.2331_*16dup
ENST00000296805.7:c.2331_*16dup (GFM2)	ENSP00000296805.3:n.2331_*16dup
ENST00000345239.6:c.2190_*16dup (GFM2)	ENSP00000296804.3:n.2190_*16dup
ENST00000503312.5:c.608+206_608+231dup (HEXB)
ENST00000505859.1:c.255+206_255+231dup (HEXB)
ENST00000509430.5:c.2331_*16dup (GFM2)	ENSP00000427004.1:n.2331_*16dup
ENST00000513867.1:n.380+206_380+231dup (HEXB)
ENST00000515125.5:n.734_759dup (GFM2)
NM_001281302.1:c.2427_*16dup (GFM2)	NP_001268231.1:n.2427_*16dup
NM_032380.4:c.2331_*16dup (GFM2)	NP_115756.2:n.2331_*16dup
NM_170691.2:c.2190_*16dup (GFM2)	NP_733792.1:n.2190_*16dup
NR_104006.1:n.2650_2675dup (GFM2)
XM_006714721.2:c.2196_*16dup (GFM2)	XP_006714784.1:n.2196_*16dup
XM_011543690.1:c.2331_*16dup (GFM2)	XP_011541992.1:n.2331_*16dup
XM_017009986.1:c.2331_*16dup (GFM2)	XP_016865475.1:n.2331_*16dup
XR_002956185.1:n.3617_3642dup (GFM2)
NM_032380.5:c.2331_*16dup (GFM2) MANE Select	NP_115756.2:n.2331_*16dup
NM_001281302.2:c.2427_*16dup (GFM2)	NP_001268231.1:n.2427_*16dup
NM_170691.3:c.2190_*16dup (GFM2)	NP_733792.1:n.2190_*16dup
NR_104006.2:n.2396_2421dup (GFM2)