Canonical Allele Identifier: CA2577945385

Gene: GFM1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.158684558del , CM000665.2:g.158684558del	GRCh38
NC_000003.11:g.158402347del , CM000665.1:g.158402347del	GRCh37
NC_000003.10:g.159885041del	NCBI36
NG_008441.1:g.45031del

Transcript Alleles

HGVS	Amino-acid Change
NM_024996.7:c.1799del MANE Select	NP_079272.4:p.Ser600LeufsTer?
ENST00000486715.6:c.1799del MANE Select	ENSP00000419038.1:p.Ser600LeufsTer?
NM_001308164.1:c.1856del	NP_001295093.1:p.Ser619LeufsTer?
NM_001308164.2:c.1856del	NP_001295093.1:p.Ser619LeufsTer?
NM_001374355.1:c.1718del	NP_001361284.1:p.Ser573LeufsTer?
NM_001374356.1:c.1682del	NP_001361285.1:p.Ser561LeufsTer?
NM_001374357.1:c.1574del	NP_001361286.1:p.Ser525LeufsTer?
NM_001374358.1:c.1340del	NP_001361287.1:p.Ser447LeufsTer?
NM_001374359.1:c.1232del	NP_001361288.1:p.Ser411LeufsTer?
NM_001374360.1:c.1232del	NP_001361289.1:p.Ser411LeufsTer?
NM_001374361.1:c.1115del	NP_001361290.1:p.Ser372LeufsTer?
NM_024996.5:c.1799del	NP_079272.4:p.Ser600LeufsTer?
NR_164499.1:n.1822del
NR_164500.1:n.1872+2401del
NR_164501.1:n.1417+2401del
NR_164502.1:n.1786del
ENST00000264263.9:c.1856del	ENSP00000264263.5:p.Ser619LeufsTer?
ENST00000477721.1:n.205del
ENST00000478254.5:c.*439del	ENSP00000417225.1:n.*439del
ENST00000481468.1:n.86del
ENST00000486715.5:c.1799del	ENSP00000419038.1:p.Ser600LeufsTer?
XM_006713795.1:c.1682del	XP_006713858.1:p.Ser561LeufsTer?
XM_006713795.2:c.1682del	XP_006713858.1:p.Ser561LeufsTer?