Canonical Allele Identifier: CA325026
Community Standard Title: NM_024996.7(GFM1):c.273del (p.Met92TrpfsTer3)

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.158646203del , CM000665.2:g.158646203del GRCh38
NC_000003.11:g.158363992del , CM000665.1:g.158363992del GRCh37
NC_000003.10:g.159846686del NCBI36
NG_008441.1:g.6676del

Transcript Alleles

HGVS Amino-acid Change
NM_024996.7:c.273del (GFM1) MANE Select NP_079272.4:p.Met92TrpfsTer3
ENST00000486715.6:c.273del (GFM1) MANE Select ENSP00000419038.1:p.Met92TrpfsTer3
NM_001308164.1:c.273del (GFM1) NP_001295093.1:p.Met92TrpfsTer3
NM_001308164.2:c.273del (GFM1) NP_001295093.1:p.Met92TrpfsTer3
NM_001308166.1:c.273del (GFM1) NP_001295095.1:p.Met92TrpfsTer3
NM_001308166.2:c.273del (GFM1) NP_001295095.1:p.Met92TrpfsTer3
NM_001374355.1:c.273del (GFM1) NP_001361284.1:p.Met92TrpfsTer3
NM_001374356.1:c.273del (GFM1) NP_001361285.1:p.Met92TrpfsTer3
NM_001374357.1:c.48del (GFM1) NP_001361286.1:p.Met17TrpfsTer3
NM_001374358.1:c.234+422del (GFM1) NP_001361287.1:n.234+422del
NM_001374359.1:c.5+422del (GFM1) NP_001361288.1:n.5+422del
NM_001374360.1:c.5+422del (GFM1) NP_001361289.1:n.5+422del
NM_001374361.1:c.5+422del (GFM1) NP_001361290.1:n.5+422del
NM_024996.5:c.273del (GFM1) NP_079272.4:p.Met92TrpfsTer3
NR_164499.1:n.381del (GFM1)
NR_164500.1:n.381del (GFM1)
NR_164501.1:n.342+422del (GFM1)
NR_164502.1:n.381del (GFM1)
ENST00000264263.9:c.273del (GFM1) ENSP00000264263.5:p.Met92TrpfsTer3
ENST00000464732.1:c.48del (GFM1) ENSP00000417532.1:p.Met17TrpfsTer3
ENST00000478254.5:c.273del (GFM1) ENSP00000417225.1:p.Met92TrpfsTer3
ENST00000478576.5:c.273del (GFM1) ENSP00000418755.1:p.Met92TrpfsTer3
ENST00000482640.5:c.369del (LXN)
ENST00000486715.5:c.273del (GFM1) ENSP00000419038.1:p.Met92TrpfsTer3
XM_006713795.1:c.273del (GFM1) XP_006713858.1:p.Met92TrpfsTer3
XM_006713795.2:c.273del (GFM1) XP_006713858.1:p.Met92TrpfsTer3