Canonical Allele Identifier: CA86495109
Community Standard Title: NM_024996.7(GFM1):c.81+283del
Gene: GFM1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.158644998del , CM000665.2:g.158644998del GRCh38
NC_000003.11:g.158362787del , CM000665.1:g.158362787del GRCh37
NC_000003.10:g.159845481del NCBI36
NG_008441.1:g.5471del

Transcript Alleles

HGVS Amino-acid Change
NM_024996.7:c.81+283del MANE Select NP_079272.4:n.81+283del
ENST00000486715.6:c.81+283del MANE Select ENSP00000419038.1:n.81+283del
NM_001308164.1:c.81+283del NP_001295093.1:n.81+283del
NM_001308164.2:c.81+283del NP_001295093.1:n.81+283del
NM_001308166.1:c.81+283del NP_001295095.1:n.81+283del
NM_001308166.2:c.81+283del NP_001295095.1:n.81+283del
NM_001374355.1:c.81+283del NP_001361284.1:n.81+283del
NM_001374356.1:c.81+283del NP_001361285.1:n.81+283del
NM_001374357.1:c.-145+117del NP_001361286.1:n.-145+117del
NM_001374358.1:c.81+283del NP_001361287.1:n.81+283del
NM_001374359.1:c.-149+283del NP_001361288.1:n.-149+283del
NM_001374360.1:c.-149+283del NP_001361289.1:n.-149+283del
NM_001374361.1:c.-149+283del NP_001361290.1:n.-149+283del
NM_024996.5:c.81+283del NP_079272.4:n.81+283del
NR_164499.1:n.189+283del
NR_164500.1:n.189+283del
NR_164501.1:n.189+283del
NR_164502.1:n.189+283del
ENST00000264263.9:c.81+283del ENSP00000264263.5:n.81+283del
ENST00000464732.1:c.-145+117del ENSP00000417532.1:n.-145+117del
ENST00000478254.5:c.81+283del ENSP00000417225.1:n.81+283del
ENST00000478576.5:c.81+283del ENSP00000418755.1:n.81+283del
ENST00000486715.5:c.81+283del ENSP00000419038.1:n.81+283del
XM_006713795.1:c.81+283del XP_006713858.1:n.81+283del
XM_006713795.2:c.81+283del XP_006713858.1:n.81+283del