Canonical Allele Identifier: CA3306454
Gene: GFM2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.74730293_74730299del , CM000667.2:g.74730293_74730299del GRCh38
NC_000005.9:g.74026118_74026124del , CM000667.1:g.74026118_74026124del GRCh37
NC_000005.8:g.74061874_74061880del NCBI36
NG_011531.1:g.41920_41926del

Transcript Alleles

HGVS Amino-acid Change
ENST00000296805.8:c.1688_1694del MANE Select ENSP00000296805.3:p.Ala563GlufsTer5
ENST00000296805.7:c.1688_1694del ENSP00000296805.3:p.Ala563GlufsTer5
ENST00000345239.6:c.1547_1553del ENSP00000296804.3:p.Ala516GlufsTer5
ENST00000506263.1:n.468_474del
ENST00000509430.5:c.1688_1694del ENSP00000427004.1:p.Ala563GlufsTer5
ENST00000514734.5:n.599_605del
ENST00000515125.5:n.245+2724_245+2730del
NM_001281302.1:c.1784_1790del NP_001268231.1:p.Ala595GlufsTer5
NM_032380.4:c.1688_1694del NP_115756.2:p.Ala563GlufsTer5
NM_170691.2:c.1547_1553del NP_733792.1:p.Ala516GlufsTer5
NR_104006.1:n.2045+2724_2045+2730del
XM_006714721.2:c.1591+2720_1591+2726del XP_006714784.1:n.1591+2720_1591+2726del
XM_011543690.1:c.1688_1694del XP_011541992.1:p.Ala563GlufsTer5
XM_017009986.1:c.1688_1694del XP_016865475.1:p.Ala563GlufsTer5
XR_002956185.1:n.3012+2724_3012+2730del
NM_032380.5:c.1688_1694del MANE Select NP_115756.2:p.Ala563GlufsTer5
NM_001281302.2:c.1784_1790del NP_001268231.1:p.Ala595GlufsTer5
NM_170691.3:c.1547_1553del NP_733792.1:p.Ala516GlufsTer5
NR_104006.2:n.1791+2724_1791+2730del