Canonical Allele Identifier: CA2674242208

Gene: GFM2 HEXB

Linked Data

• gnomAD v4: 5-74721586-A-ATAAAAATTGTCCTTACTGAAAATGAAGTAGC

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.74721596_74721597insCCTTACTGAAAATGAAGTAGCTAAAAATTGT , CM000667.2:g.74721596_74721597insCCTTACTGAAAATGAAGTAGCTAAAAATTGT	GRCh38
NC_000005.9:g.74017421_74017422insCCTTACTGAAAATGAAGTAGCTAAAAATTGT , CM000667.1:g.74017421_74017422insCCTTACTGAAAATGAAGTAGCTAAAAATTGT	GRCh37
NC_000005.8:g.74053177_74053178insCCTTACTGAAAATGAAGTAGCTAAAAATTGT	NCBI36
NG_009770.1:g.41453_41454insCCTTACTGAAAATGAAGTAGCTAAAAATTGT
NG_011531.1:g.50631_50632insGCTACTTCATTTTCAGTAAGGACAATTTTTA
NG_009770.2:g.86574_86575insCCTTACTGAAAATGAAGTAGCTAAAAATTGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296805.8:c.*68_*69insGCTACTTCATTTTCAGTAAGGACAATTTTTA (GFM2) MANE Select	ENSP00000296805.3:n.*68_*69insGCTACTTCATTTTCAGTAAGGACAATTTTTA...
ENST00000296805.7:c.*68_*69insGCTACTTCATTTTCAGTAAGGACAATTTTTA (GFM2)	ENSP00000296805.3:n.*68_*69insGCTACTTCATTTTCAGTAAGGACAATTTTTA...
ENST00000345239.6:c.*68_*69insGCTACTTCATTTTCAGTAAGGACAATTTTTA (GFM2)	ENSP00000296804.3:n.*68_*69insGCTACTTCATTTTCAGTAAGGACAATTTTTA...
ENST00000503312.5:c.608+160_608+161insCCTTACTGAAAATGAAGTAGCTAAAAATTGT (HEXB)
ENST00000505859.1:c.255+160_255+161insCCTTACTGAAAATGAAGTAGCTAAAAATTGT (HEXB)
ENST00000509430.5:c.*68_*69insGCTACTTCATTTTCAGTAAGGACAATTTTTA (GFM2)	ENSP00000427004.1:n.*68_*69insGCTACTTCATTTTCAGTAAGGACAATTTTTA...
ENST00000513867.1:n.380+160_380+161insCCTTACTGAAAATGAAGTAGCTAAAAATTGT (HEXB)
ENST00000515125.5:n.811_812insGCTACTTCATTTTCAGTAAGGACAATTTTTA (GFM2)
NM_001281302.1:c.*68_*69insGCTACTTCATTTTCAGTAAGGACAATTTTTA (GFM2)	NP_001268231.1:n.*68_*69insGCTACTTCATTTTCAGTAAGGACAATTTTTA
NM_032380.4:c.*68_*69insGCTACTTCATTTTCAGTAAGGACAATTTTTA (GFM2)	NP_115756.2:n.*68_*69insGCTACTTCATTTTCAGTAAGGACAATTTTTA
NM_170691.2:c.*68_*69insGCTACTTCATTTTCAGTAAGGACAATTTTTA (GFM2)	NP_733792.1:n.*68_*69insGCTACTTCATTTTCAGTAAGGACAATTTTTA
NR_104006.1:n.2727_2728insGCTACTTCATTTTCAGTAAGGACAATTTTTA (GFM2)
XM_006714721.2:c.*68_*69insGCTACTTCATTTTCAGTAAGGACAATTTTTA (GFM2)	XP_006714784.1:n.*68_*69insGCTACTTCATTTTCAGTAAGGACAATTTTTA
XM_011543690.1:c.*68_*69insGCTACTTCATTTTCAGTAAGGACAATTTTTA (GFM2)	XP_011541992.1:n.*68_*69insGCTACTTCATTTTCAGTAAGGACAATTTTTA
XM_017009986.1:c.*68_*69insGCTACTTCATTTTCAGTAAGGACAATTTTTA (GFM2)	XP_016865475.1:n.*68_*69insGCTACTTCATTTTCAGTAAGGACAATTTTTA
XR_002956185.1:n.3694_3695insGCTACTTCATTTTCAGTAAGGACAATTTTTA (GFM2)
NM_032380.5:c.*68_*69insGCTACTTCATTTTCAGTAAGGACAATTTTTA (GFM2) MANE Select	NP_115756.2:n.*68_*69insGCTACTTCATTTTCAGTAAGGACAATTTTTA
NM_001281302.2:c.*68_*69insGCTACTTCATTTTCAGTAAGGACAATTTTTA (GFM2)	NP_001268231.1:n.*68_*69insGCTACTTCATTTTCAGTAAGGACAATTTTTA
NM_170691.3:c.*68_*69insGCTACTTCATTTTCAGTAAGGACAATTTTTA (GFM2)	NP_733792.1:n.*68_*69insGCTACTTCATTTTCAGTAAGGACAATTTTTA
NR_104006.2:n.2473_2474insGCTACTTCATTTTCAGTAAGGACAATTTTTA (GFM2)