Canonical Allele Identifier: CA2695199330

Gene: GFM1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.158690204del , CM000665.2:g.158690204del	GRCh38
NC_000003.11:g.158407993del , CM000665.1:g.158407993del	GRCh37
NC_000003.10:g.159890687del	NCBI36
NG_008441.1:g.50677del

Transcript Alleles

HGVS	Amino-acid Change
NM_024996.7:c.1951del MANE Select	NP_079272.4:p.Ala651LeufsTer5
ENST00000486715.6:c.1951del MANE Select	ENSP00000419038.1:p.Ala651LeufsTer5
NM_001308164.1:c.2008del	NP_001295093.1:p.Ala670LeufsTer5
NM_001308164.2:c.2008del	NP_001295093.1:p.Ala670LeufsTer5
NM_001374355.1:c.1870del	NP_001361284.1:p.Ala624LeufsTer5
NM_001374356.1:c.1834del	NP_001361285.1:p.Ala612LeufsTer5
NM_001374357.1:c.1726del	NP_001361286.1:p.Ala576LeufsTer5
NM_001374358.1:c.1492del	NP_001361287.1:p.Ala498LeufsTer5
NM_001374359.1:c.1384del	NP_001361288.1:p.Ala462LeufsTer5
NM_001374360.1:c.1384del	NP_001361289.1:p.Ala462LeufsTer5
NM_001374361.1:c.1267del	NP_001361290.1:p.Ala423LeufsTer5
NM_024996.5:c.1951del	NP_079272.4:p.Ala651LeufsTer5
NR_164499.1:n.1974del
NR_164500.1:n.1914del
NR_164501.1:n.1459del
NR_164502.1:n.1938del
ENST00000264263.9:c.2008del	ENSP00000264263.5:p.Ala670LeufsTer5
ENST00000472383.1:c.39-935del
ENST00000477721.1:n.357del
ENST00000478254.5:c.*591del	ENSP00000417225.1:n.*591del
ENST00000486715.5:c.1951del	ENSP00000419038.1:p.Ala651LeufsTer5
XM_006713795.1:c.1834del	XP_006713858.1:p.Ala612LeufsTer5
XM_006713795.2:c.1834del	XP_006713858.1:p.Ala612LeufsTer5