Canonical Allele Identifier: CA2674242508

Gene: GFM2 HEXB

Linked Data

• gnomAD v4: 5-74721913-CCAAA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.74721916_74721919del , CM000667.2:g.74721916_74721919del	GRCh38
NC_000005.9:g.74017741_74017744del , CM000667.1:g.74017741_74017744del	GRCh37
NC_000005.8:g.74053497_74053500del	NCBI36
NG_009770.1:g.41773_41776del
NG_011531.1:g.50301_50304del
NG_009770.2:g.86894_86897del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296805.8:c.2212-134_2212-131del (GFM2) MANE Select	ENSP00000296805.3:n.2212-134_2212-131del
ENST00000296805.7:c.2212-134_2212-131del (GFM2)	ENSP00000296805.3:n.2212-134_2212-131del
ENST00000345239.6:c.2071-134_2071-131del (GFM2)	ENSP00000296804.3:n.2071-134_2071-131del
ENST00000503312.5:c.608+480_608+483del (HEXB)
ENST00000505859.1:c.256-383_256-380del (HEXB)
ENST00000509430.5:c.2212-134_2212-131del (GFM2)	ENSP00000427004.1:n.2212-134_2212-131del
ENST00000513867.1:n.381-383_381-380del (HEXB)
ENST00000515125.5:n.615-134_615-131del (GFM2)
NM_001281302.1:c.2308-134_2308-131del (GFM2)	NP_001268231.1:n.2308-134_2308-131del
NM_032380.4:c.2212-134_2212-131del (GFM2)	NP_115756.2:n.2212-134_2212-131del
NM_170691.2:c.2071-134_2071-131del (GFM2)	NP_733792.1:n.2071-134_2071-131del
NR_104006.1:n.2531-134_2531-131del (GFM2)
XM_006714721.2:c.2077-134_2077-131del (GFM2)	XP_006714784.1:n.2077-134_2077-131del
XM_011543690.1:c.2212-134_2212-131del (GFM2)	XP_011541992.1:n.2212-134_2212-131del
XM_017009986.1:c.2212-134_2212-131del (GFM2)	XP_016865475.1:n.2212-134_2212-131del
XR_002956185.1:n.3498-134_3498-131del (GFM2)
NM_032380.5:c.2212-134_2212-131del (GFM2) MANE Select	NP_115756.2:n.2212-134_2212-131del
NM_001281302.2:c.2308-134_2308-131del (GFM2)	NP_001268231.1:n.2308-134_2308-131del
NM_170691.3:c.2071-134_2071-131del (GFM2)	NP_733792.1:n.2071-134_2071-131del
NR_104006.2:n.2277-134_2277-131del (GFM2)