Canonical Allele Identifier: CA2674242261

Gene: GFM2 HEXB

Linked Data

• gnomAD v4: 5-74721693-G-GATCTTGAGGATTCATGGCTTGATAA

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.74721694_74721718dup , CM000667.2:g.74721694_74721718dup	GRCh38
NC_000005.9:g.74017519_74017543dup , CM000667.1:g.74017519_74017543dup	GRCh37
NC_000005.8:g.74053275_74053299dup	NCBI36
NG_009770.1:g.41551_41575dup
NG_011531.1:g.50500_50524dup
NG_009770.2:g.86672_86696dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296805.8:c.2277_2301dup (GFM2) MANE Select	ENSP00000296805.3:p.Gln768LeufsTer34
ENST00000296805.7:c.2277_2301dup (GFM2)	ENSP00000296805.3:p.Gln768LeufsTer34
ENST00000345239.6:c.2136_2160dup (GFM2)	ENSP00000296804.3:p.Gln721LeufsTer34
ENST00000503312.5:c.608+258_608+282dup (HEXB)
ENST00000505859.1:c.255+258_255+282dup (HEXB)
ENST00000509430.5:c.2277_2301dup (GFM2)	ENSP00000427004.1:p.Gln768LeufsTer34
ENST00000513867.1:n.380+258_380+282dup (HEXB)
ENST00000515125.5:n.680_704dup (GFM2)
NM_001281302.1:c.2373_2397dup (GFM2)	NP_001268231.1:p.Gln800LeufsTer34
NM_032380.4:c.2277_2301dup (GFM2)	NP_115756.2:p.Gln768LeufsTer34
NM_170691.2:c.2136_2160dup (GFM2)	NP_733792.1:p.Gln721LeufsTer34
NR_104006.1:n.2596_2620dup (GFM2)
XM_006714721.2:c.2142_2166dup (GFM2)	XP_006714784.1:p.Gln723LeufsTer34
XM_011543690.1:c.2277_2301dup (GFM2)	XP_011541992.1:p.Gln768LeufsTer34
XM_017009986.1:c.2277_2301dup (GFM2)	XP_016865475.1:p.Gln768LeufsTer34
XR_002956185.1:n.3563_3587dup (GFM2)
NM_032380.5:c.2277_2301dup (GFM2) MANE Select	NP_115756.2:p.Gln768LeufsTer34
NM_001281302.2:c.2373_2397dup (GFM2)	NP_001268231.1:p.Gln800LeufsTer34
NM_170691.3:c.2136_2160dup (GFM2)	NP_733792.1:p.Gln721LeufsTer34
NR_104006.2:n.2342_2366dup (GFM2)