Canonical Allele Identifier: CA2674242423

Gene: GFM2 HEXB

Linked Data

• gnomAD v4: 5-74721849-TTATCTTTTGAC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.74721853_74721863del , CM000667.2:g.74721853_74721863del	GRCh38
NC_000005.9:g.74017678_74017688del , CM000667.1:g.74017678_74017688del	GRCh37
NC_000005.8:g.74053434_74053444del	NCBI36
NG_009770.1:g.41710_41720del
NG_011531.1:g.50358_50368del
NG_009770.2:g.86831_86841del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296805.8:c.2212-77_2212-67del (GFM2) MANE Select	ENSP00000296805.3:n.2212-77_2212-67del
ENST00000296805.7:c.2212-77_2212-67del (GFM2)	ENSP00000296805.3:n.2212-77_2212-67del
ENST00000345239.6:c.2071-77_2071-67del (GFM2)	ENSP00000296804.3:n.2071-77_2071-67del
ENST00000503312.5:c.608+417_608+427del (HEXB)
ENST00000505859.1:c.255+417_255+427del (HEXB)
ENST00000509430.5:c.2212-77_2212-67del (GFM2)	ENSP00000427004.1:n.2212-77_2212-67del
ENST00000513867.1:n.380+417_380+427del (HEXB)
ENST00000515125.5:n.615-77_615-67del (GFM2)
NM_001281302.1:c.2308-77_2308-67del (GFM2)	NP_001268231.1:n.2308-77_2308-67del
NM_032380.4:c.2212-77_2212-67del (GFM2)	NP_115756.2:n.2212-77_2212-67del
NM_170691.2:c.2071-77_2071-67del (GFM2)	NP_733792.1:n.2071-77_2071-67del
NR_104006.1:n.2531-77_2531-67del (GFM2)
XM_006714721.2:c.2077-77_2077-67del (GFM2)	XP_006714784.1:n.2077-77_2077-67del
XM_011543690.1:c.2212-77_2212-67del (GFM2)	XP_011541992.1:n.2212-77_2212-67del
XM_017009986.1:c.2212-77_2212-67del (GFM2)	XP_016865475.1:n.2212-77_2212-67del
XR_002956185.1:n.3498-77_3498-67del (GFM2)
NM_032380.5:c.2212-77_2212-67del (GFM2) MANE Select	NP_115756.2:n.2212-77_2212-67del
NM_001281302.2:c.2308-77_2308-67del (GFM2)	NP_001268231.1:n.2308-77_2308-67del
NM_170691.3:c.2071-77_2071-67del (GFM2)	NP_733792.1:n.2071-77_2071-67del
NR_104006.2:n.2277-77_2277-67del (GFM2)