Canonical Allele Identifier: CA2674242238

Gene: GFM2 HEXB

Linked Data

• gnomAD v4: 5-74721622-T-TA

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.74721622_74721623insA , CM000667.2:g.74721622_74721623insA	GRCh38
NC_000005.9:g.74017447_74017448insA , CM000667.1:g.74017447_74017448insA	GRCh37
NC_000005.8:g.74053203_74053204insA	NCBI36
NG_009770.1:g.41479_41480insA
NG_011531.1:g.50595_50596insT
NG_009770.2:g.86600_86601insA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296805.8:c.*32_*33insT (GFM2) MANE Select	ENSP00000296805.3:n.*32_*33insT
ENST00000296805.7:c.*32_*33insT (GFM2)	ENSP00000296805.3:n.*32_*33insT
ENST00000345239.6:c.*32_*33insT (GFM2)	ENSP00000296804.3:n.*32_*33insT
ENST00000503312.5:c.608+186_608+187insA (HEXB)
ENST00000505859.1:c.255+186_255+187insA (HEXB)
ENST00000509430.5:c.*32_*33insT (GFM2)	ENSP00000427004.1:n.*32_*33insT
ENST00000513867.1:n.380+186_380+187insA (HEXB)
ENST00000515125.5:n.775_776insT (GFM2)
NM_001281302.1:c.*32_*33insT (GFM2)	NP_001268231.1:n.*32_*33insT
NM_032380.4:c.*32_*33insT (GFM2)	NP_115756.2:n.*32_*33insT
NM_170691.2:c.*32_*33insT (GFM2)	NP_733792.1:n.*32_*33insT
NR_104006.1:n.2691_2692insT (GFM2)
XM_006714721.2:c.*32_*33insT (GFM2)	XP_006714784.1:n.*32_*33insT
XM_011543690.1:c.*32_*33insT (GFM2)	XP_011541992.1:n.*32_*33insT
XM_017009986.1:c.*32_*33insT (GFM2)	XP_016865475.1:n.*32_*33insT
XR_002956185.1:n.3658_3659insT (GFM2)
NM_032380.5:c.*32_*33insT (GFM2) MANE Select	NP_115756.2:n.*32_*33insT
NM_001281302.2:c.*32_*33insT (GFM2)	NP_001268231.1:n.*32_*33insT
NM_170691.3:c.*32_*33insT (GFM2)	NP_733792.1:n.*32_*33insT
NR_104006.2:n.2437_2438insT (GFM2)