Canonical Allele Identifier: CA2674242291

Gene: GFM2 HEXB

Linked Data

• gnomAD v4: 5-74721730-T-TAAGGCAAAA

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.74721731_74721739dup , CM000667.2:g.74721731_74721739dup	GRCh38
NC_000005.9:g.74017556_74017564dup , CM000667.1:g.74017556_74017564dup	GRCh37
NC_000005.8:g.74053312_74053320dup	NCBI36
NG_009770.1:g.41588_41596dup
NG_011531.1:g.50479_50487dup
NG_009770.2:g.86709_86717dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296805.8:c.2256_2264dup (GFM2) MANE Select	ENSP00000296805.3:p.Ala754_Leu755insPhePheAla
ENST00000296805.7:c.2256_2264dup (GFM2)	ENSP00000296805.3:p.Ala754_Leu755insPhePheAla
ENST00000345239.6:c.2115_2123dup (GFM2)	ENSP00000296804.3:p.Ala707_Leu708insPhePheAla
ENST00000503312.5:c.608+295_608+303dup (HEXB)
ENST00000505859.1:c.255+295_255+303dup (HEXB)
ENST00000509430.5:c.2256_2264dup (GFM2)	ENSP00000427004.1:p.Ala754_Leu755insPhePheAla
ENST00000513867.1:n.380+295_380+303dup (HEXB)
ENST00000515125.5:n.659_667dup (GFM2)
NM_001281302.1:c.2352_2360dup (GFM2)	NP_001268231.1:p.Ala786_Leu787insPhePheAla
NM_032380.4:c.2256_2264dup (GFM2)	NP_115756.2:p.Ala754_Leu755insPhePheAla
NM_170691.2:c.2115_2123dup (GFM2)	NP_733792.1:p.Ala707_Leu708insPhePheAla
NR_104006.1:n.2575_2583dup (GFM2)
XM_006714721.2:c.2121_2129dup (GFM2)	XP_006714784.1:p.Ala709_Leu710insPhePheAla
XM_011543690.1:c.2256_2264dup (GFM2)	XP_011541992.1:p.Ala754_Leu755insPhePheAla
XM_017009986.1:c.2256_2264dup (GFM2)	XP_016865475.1:p.Ala754_Leu755insPhePheAla
XR_002956185.1:n.3542_3550dup (GFM2)
NM_032380.5:c.2256_2264dup (GFM2) MANE Select	NP_115756.2:p.Ala754_Leu755insPhePheAla
NM_001281302.2:c.2352_2360dup (GFM2)	NP_001268231.1:p.Ala786_Leu787insPhePheAla
NM_170691.3:c.2115_2123dup (GFM2)	NP_733792.1:p.Ala707_Leu708insPhePheAla
NR_104006.2:n.2321_2329dup (GFM2)