Canonical Allele Identifier: CA2674242197

Gene: GFM2 HEXB

Linked Data

• gnomAD v4: 5-74721570-TCCAATAAATAAA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.74721571_74721582del , CM000667.2:g.74721571_74721582del	GRCh38
NC_000005.9:g.74017396_74017407del , CM000667.1:g.74017396_74017407del	GRCh37
NC_000005.8:g.74053152_74053163del	NCBI36
NG_009770.1:g.41428_41439del
NG_011531.1:g.50636_50647del
NG_009770.2:g.86549_86560del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296805.8:c.*73_*84del (GFM2) MANE Select	ENSP00000296805.3:n.*73_*84del
ENST00000296805.7:c.*73_*84del (GFM2)	ENSP00000296805.3:n.*73_*84del
ENST00000345239.6:c.*73_*84del (GFM2)	ENSP00000296804.3:n.*73_*84del
ENST00000503312.5:c.608+135_608+146del (HEXB)
ENST00000505859.1:c.255+135_255+146del (HEXB)
ENST00000509430.5:c.*73_*84del (GFM2)	ENSP00000427004.1:n.*73_*84del
ENST00000513867.1:n.380+135_380+146del (HEXB)
ENST00000515125.5:n.816_827del (GFM2)
NM_001281302.1:c.*73_*84del (GFM2)	NP_001268231.1:n.*73_*84del
NM_032380.4:c.*73_*84del (GFM2)	NP_115756.2:n.*73_*84del
NM_170691.2:c.*73_*84del (GFM2)	NP_733792.1:n.*73_*84del
NR_104006.1:n.2732_2743del (GFM2)
XM_006714721.2:c.*73_*84del (GFM2)	XP_006714784.1:n.*73_*84del
XM_011543690.1:c.*73_*84del (GFM2)	XP_011541992.1:n.*73_*84del
XM_017009986.1:c.*73_*84del (GFM2)	XP_016865475.1:n.*73_*84del
XR_002956185.1:n.3699_3710del (GFM2)
NM_032380.5:c.*73_*84del (GFM2) MANE Select	NP_115756.2:n.*73_*84del
NM_001281302.2:c.*73_*84del (GFM2)	NP_001268231.1:n.*73_*84del
NM_170691.3:c.*73_*84del (GFM2)	NP_733792.1:n.*73_*84del
NR_104006.2:n.2478_2489del (GFM2)