Canonical Allele Identifier: CA10620767

Gene: HEXB GFM2

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.74721257_74721258del , CM000667.2:g.74721257_74721258del	GRCh38
NC_000005.9:g.74017082_74017083del , CM000667.1:g.74017082_74017083del	GRCh37
NC_000005.8:g.74052838_74052839del	NCBI36
NG_009770.1:g.41114_41115del
NG_011531.1:g.50961_50962del
NG_009770.2:g.86235_86236del

Transcript Alleles

HGVS	Amino-acid Change
NM_000521.4:c.*82_*83del (HEXB) MANE Select	NP_000512.2:n.*82_*83del
NM_032380.5:c.*398_*399del (GFM2) MANE Select	NP_115756.2:n.*398_*399del
ENST00000261416.12:c.*82_*83del (HEXB) MANE Select	ENSP00000261416.7:n.*82_*83del
ENST00000296805.8:c.*398_*399del (GFM2) MANE Select	ENSP00000296805.3:n.*398_*399del
NM_000521.3:c.*82_*83del (HEXB)	NP_000512.1:n.*82_*83del
NM_001281302.1:c.*398_*399del (GFM2)	NP_001268231.1:n.*398_*399del
NM_001281302.2:c.*398_*399del (GFM2)	NP_001268231.1:n.*398_*399del
NM_001292004.1:c.*82_*83del (HEXB)	NP_001278933.1:n.*82_*83del
NM_001292004.2:c.*82_*83del (HEXB)	NP_001278933.1:n.*82_*83del
NM_032380.4:c.*398_*399del (GFM2)	NP_115756.2:n.*398_*399del
NM_170691.2:c.*398_*399del (GFM2)	NP_733792.1:n.*398_*399del
NM_170691.3:c.*398_*399del (GFM2)	NP_733792.1:n.*398_*399del
NR_104006.1:n.3057_3058del (GFM2)
NR_104006.2:n.2803_2804del (GFM2)
ENST00000261416.11:c.*82_*83del (HEXB)	ENSP00000261416.7:n.*82_*83del
ENST00000296805.7:c.*398_*399del (GFM2)	ENSP00000296805.3:n.*398_*399del
ENST00000345239.6:c.*398_*399del (GFM2)	ENSP00000296804.3:n.*398_*399del
ENST00000503312.5:c.490-61_490-60del (HEXB)
ENST00000505859.1:c.137-61_137-60del (HEXB)
ENST00000509579.1:c.*82_*83del (HEXB)	ENSP00000424939.1:n.*82_*83del
ENST00000511181.5:c.*82_*83del (HEXB)	ENSP00000426285.1:n.*82_*83del
ENST00000513336.5:c.689_690del (HEXB)
ENST00000513539.1:n.472_473del (HEXB)
ENST00000513867.1:n.201_202del (HEXB)
XM_017009986.1:c.*398_*399del (GFM2)	XP_016865475.1:n.*398_*399del
XR_002956185.1:n.4024_4025del (GFM2)