Canonical Allele Identifier: CA2695199326

Gene: GFM1 LXN

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.158649047dup , CM000665.2:g.158649047dup	GRCh38
NC_000003.11:g.158366836dup , CM000665.1:g.158366836dup	GRCh37
NC_000003.10:g.159849530dup	NCBI36
NG_008441.1:g.9520dup

Transcript Alleles

HGVS	Amino-acid Change
NM_024996.7:c.579dup (GFM1) MANE Select	NP_079272.4:p.Leu194ThrfsTer4
ENST00000486715.6:c.579dup (GFM1) MANE Select	ENSP00000419038.1:p.Leu194ThrfsTer4
NM_001308164.1:c.579dup (GFM1)	NP_001295093.1:p.Leu194ThrfsTer4
NM_001308164.2:c.579dup (GFM1)	NP_001295093.1:p.Leu194ThrfsTer4
NM_001308166.1:c.579dup (GFM1)	NP_001295095.1:p.Leu194ThrfsTer4
NM_001308166.2:c.579dup (GFM1)	NP_001295095.1:p.Leu194ThrfsTer4
NM_001374355.1:c.579dup (GFM1)	NP_001361284.1:p.Leu194ThrfsTer4
NM_001374356.1:c.572+2100dup (GFM1)	NP_001361285.1:n.572+2100dup
NM_001374357.1:c.354dup (GFM1)	NP_001361286.1:p.Leu119ThrfsTer4
NM_001374358.1:c.235-3053dup (GFM1)	NP_001361287.1:n.235-3053dup
NM_001374359.1:c.12dup (GFM1)	NP_001361288.1:p.Leu5ThrfsTer4
NM_001374360.1:c.12dup (GFM1)	NP_001361289.1:p.Leu5ThrfsTer4
NM_001374361.1:c.6-3049dup (GFM1)	NP_001361290.1:n.6-3049dup
NM_024996.5:c.579dup (GFM1)	NP_079272.4:p.Leu194ThrfsTer4
NR_164499.1:n.687dup (GFM1)
NR_164500.1:n.687dup (GFM1)
NR_164501.1:n.343-3049dup (GFM1)
NR_164502.1:n.680+2100dup (GFM1)
ENST00000264263.9:c.579dup (GFM1)	ENSP00000264263.5:p.Leu194ThrfsTer4
ENST00000478251.1:n.67dup (GFM1)
ENST00000478254.5:c.579dup (GFM1)	ENSP00000417225.1:p.Leu194ThrfsTer4
ENST00000478576.5:c.579dup (GFM1)	ENSP00000418755.1:p.Leu194ThrfsTer4
ENST00000482640.5:c.362-2836dup (LXN)
ENST00000486715.5:c.579dup (GFM1)	ENSP00000419038.1:p.Leu194ThrfsTer4
XM_006713795.1:c.572+2100dup (GFM1)	XP_006713858.1:n.572+2100dup
XM_006713795.2:c.572+2100dup (GFM1)	XP_006713858.1:n.572+2100dup