Canonical Allele Identifier: CA2674242363

Gene: GFM2 HEXB

Linked Data

• gnomAD v4: 5-74721788-TCAAAA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.74721789_74721793del , CM000667.2:g.74721789_74721793del	GRCh38
NC_000005.9:g.74017614_74017618del , CM000667.1:g.74017614_74017618del	GRCh37
NC_000005.8:g.74053370_74053374del	NCBI36
NG_009770.1:g.41646_41650del
NG_011531.1:g.50425_50429del
NG_009770.2:g.86767_86771del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296805.8:c.2212-10_2212-6del (GFM2) MANE Select	ENSP00000296805.3:n.2212-10_2212-6del
ENST00000296805.7:c.2212-10_2212-6del (GFM2)	ENSP00000296805.3:n.2212-10_2212-6del
ENST00000345239.6:c.2071-10_2071-6del (GFM2)	ENSP00000296804.3:n.2071-10_2071-6del
ENST00000503312.5:c.608+353_608+357del (HEXB)
ENST00000505859.1:c.255+353_255+357del (HEXB)
ENST00000509430.5:c.2212-10_2212-6del (GFM2)	ENSP00000427004.1:n.2212-10_2212-6del
ENST00000513867.1:n.380+353_380+357del (HEXB)
ENST00000515125.5:n.615-10_615-6del (GFM2)
NM_001281302.1:c.2308-10_2308-6del (GFM2)	NP_001268231.1:n.2308-10_2308-6del
NM_032380.4:c.2212-10_2212-6del (GFM2)	NP_115756.2:n.2212-10_2212-6del
NM_170691.2:c.2071-10_2071-6del (GFM2)	NP_733792.1:n.2071-10_2071-6del
NR_104006.1:n.2531-10_2531-6del (GFM2)
XM_006714721.2:c.2077-10_2077-6del (GFM2)	XP_006714784.1:n.2077-10_2077-6del
XM_011543690.1:c.2212-10_2212-6del (GFM2)	XP_011541992.1:n.2212-10_2212-6del
XM_017009986.1:c.2212-10_2212-6del (GFM2)	XP_016865475.1:n.2212-10_2212-6del
XR_002956185.1:n.3498-10_3498-6del (GFM2)
NM_032380.5:c.2212-10_2212-6del (GFM2) MANE Select	NP_115756.2:n.2212-10_2212-6del
NM_001281302.2:c.2308-10_2308-6del (GFM2)	NP_001268231.1:n.2308-10_2308-6del
NM_170691.3:c.2071-10_2071-6del (GFM2)	NP_733792.1:n.2071-10_2071-6del
NR_104006.2:n.2277-10_2277-6del (GFM2)