Canonical Allele Identifier: CA560766162

Gene: GFM2 HEXB

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.74722440del , CM000667.2:g.74722440del	GRCh38
NC_000005.9:g.74018265del , CM000667.1:g.74018265del	GRCh37
NC_000005.8:g.74054021del	NCBI36
NG_009770.1:g.42297del
NG_011531.1:g.49780del
NG_009770.2:g.87418del

Transcript Alleles

HGVS	Amino-acid Change
NM_032380.5:c.2152del (GFM2) MANE Select	NP_115756.2:p.Ile718PhefsTer16
ENST00000296805.8:c.2152del (GFM2) MANE Select	ENSP00000296805.3:p.Ile718PhefsTer16
NM_001281302.1:c.2248del (GFM2)	NP_001268231.1:p.Ile750PhefsTer16
NM_001281302.2:c.2248del (GFM2)	NP_001268231.1:p.Ile750PhefsTer16
NM_032380.4:c.2152del (GFM2)	NP_115756.2:p.Ile718PhefsTer16
NM_170691.2:c.2011del (GFM2)	NP_733792.1:p.Ile671PhefsTer16
NM_170691.3:c.2011del (GFM2)	NP_733792.1:p.Ile671PhefsTer16
NR_104006.1:n.2471del (GFM2)
NR_104006.2:n.2217del (GFM2)
ENST00000296805.7:c.2152del (GFM2)	ENSP00000296805.3:p.Ile718PhefsTer16
ENST00000345239.6:c.2011del (GFM2)	ENSP00000296804.3:p.Ile671PhefsTer16
ENST00000503312.5:c.609-29del (HEXB)
ENST00000505859.1:c.397del (HEXB)
ENST00000509430.5:c.2152del (GFM2)	ENSP00000427004.1:p.Ile718PhefsTer16
ENST00000513867.1:n.522del (HEXB)
ENST00000515125.5:n.555del (GFM2)
XM_006714721.2:c.2017del (GFM2)	XP_006714784.1:p.Ile673PhefsTer16
XM_011543690.1:c.2152del (GFM2)	XP_011541992.1:p.Ile718PhefsTer16
XM_017009986.1:c.2152del (GFM2)	XP_016865475.1:p.Ile718PhefsTer16
XR_002956185.1:n.3438del (GFM2)