Canonical Allele Identifier: CA2674242246

Gene: GFM2 HEXB

Linked Data

• gnomAD v4: 5-74721642-A-AAAACTAAAACATTT

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.74721644_74721657dup , CM000667.2:g.74721644_74721657dup	GRCh38
NC_000005.9:g.74017469_74017482dup , CM000667.1:g.74017469_74017482dup	GRCh37
NC_000005.8:g.74053225_74053238dup	NCBI36
NG_009770.1:g.41501_41514dup
NG_011531.1:g.50562_50575dup
NG_009770.2:g.86622_86635dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296805.8:c.2339_*12dup (GFM2) MANE Select	ENSP00000296805.3:n.2339_*12dup
ENST00000296805.7:c.2339_*12dup (GFM2)	ENSP00000296805.3:n.2339_*12dup
ENST00000345239.6:c.2198_*12dup (GFM2)	ENSP00000296804.3:n.2198_*12dup
ENST00000503312.5:c.608+208_608+221dup (HEXB)
ENST00000505859.1:c.255+208_255+221dup (HEXB)
ENST00000509430.5:c.2339_*12dup (GFM2)	ENSP00000427004.1:n.2339_*12dup
ENST00000513867.1:n.380+208_380+221dup (HEXB)
ENST00000515125.5:n.742_755dup (GFM2)
NM_001281302.1:c.2435_*12dup (GFM2)	NP_001268231.1:n.2435_*12dup
NM_032380.4:c.2339_*12dup (GFM2)	NP_115756.2:n.2339_*12dup
NM_170691.2:c.2198_*12dup (GFM2)	NP_733792.1:n.2198_*12dup
NR_104006.1:n.2658_2671dup (GFM2)
XM_006714721.2:c.2204_*12dup (GFM2)	XP_006714784.1:n.2204_*12dup
XM_011543690.1:c.2339_*12dup (GFM2)	XP_011541992.1:n.2339_*12dup
XM_017009986.1:c.2339_*12dup (GFM2)	XP_016865475.1:n.2339_*12dup
XR_002956185.1:n.3625_3638dup (GFM2)
NM_032380.5:c.2339_*12dup (GFM2) MANE Select	NP_115756.2:n.2339_*12dup
NM_001281302.2:c.2435_*12dup (GFM2)	NP_001268231.1:n.2435_*12dup
NM_170691.3:c.2198_*12dup (GFM2)	NP_733792.1:n.2198_*12dup
NR_104006.2:n.2404_2417dup (GFM2)