Canonical Allele Identifier: CA2674242210

Gene: GFM2 HEXB

Linked Data

• gnomAD v4: 5-74721587-T-TAAAAATTGTTCTTACTGA

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.74721591_74721608dup , CM000667.2:g.74721591_74721608dup	GRCh38
NC_000005.9:g.74017416_74017433dup , CM000667.1:g.74017416_74017433dup	GRCh37
NC_000005.8:g.74053172_74053189dup	NCBI36
NG_009770.1:g.41448_41465dup
NG_011531.1:g.50613_50630dup
NG_009770.2:g.86569_86586dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296805.8:c.*50_*67dup (GFM2) MANE Select	ENSP00000296805.3:n.*50_*67dup
ENST00000296805.7:c.*50_*67dup (GFM2)	ENSP00000296805.3:n.*50_*67dup
ENST00000345239.6:c.*50_*67dup (GFM2)	ENSP00000296804.3:n.*50_*67dup
ENST00000503312.5:c.608+155_608+172dup (HEXB)
ENST00000505859.1:c.255+155_255+172dup (HEXB)
ENST00000509430.5:c.*50_*67dup (GFM2)	ENSP00000427004.1:n.*50_*67dup
ENST00000513867.1:n.380+155_380+172dup (HEXB)
ENST00000515125.5:n.793_810dup (GFM2)
NM_001281302.1:c.*50_*67dup (GFM2)	NP_001268231.1:n.*50_*67dup
NM_032380.4:c.*50_*67dup (GFM2)	NP_115756.2:n.*50_*67dup
NM_170691.2:c.*50_*67dup (GFM2)	NP_733792.1:n.*50_*67dup
NR_104006.1:n.2709_2726dup (GFM2)
XM_006714721.2:c.*50_*67dup (GFM2)	XP_006714784.1:n.*50_*67dup
XM_011543690.1:c.*50_*67dup (GFM2)	XP_011541992.1:n.*50_*67dup
XM_017009986.1:c.*50_*67dup (GFM2)	XP_016865475.1:n.*50_*67dup
XR_002956185.1:n.3676_3693dup (GFM2)
NM_032380.5:c.*50_*67dup (GFM2) MANE Select	NP_115756.2:n.*50_*67dup
NM_001281302.2:c.*50_*67dup (GFM2)	NP_001268231.1:n.*50_*67dup
NM_170691.3:c.*50_*67dup (GFM2)	NP_733792.1:n.*50_*67dup
NR_104006.2:n.2455_2472dup (GFM2)