Canonical Allele Identifier: CA2695199317

Gene: GFM1 LXN

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.158653378del , CM000665.2:g.158653378del	GRCh38
NC_000003.11:g.158371167del , CM000665.1:g.158371167del	GRCh37
NC_000003.10:g.159853861del	NCBI36
NG_008441.1:g.13851del

Transcript Alleles

HGVS	Amino-acid Change
NM_024996.7:c.909del (GFM1) MANE Select	NP_079272.4:p.Asn303LysfsTer8
ENST00000486715.6:c.909del (GFM1) MANE Select	ENSP00000419038.1:p.Asn303LysfsTer8
NM_001308164.1:c.966del (GFM1)	NP_001295093.1:p.Asn322LysfsTer8
NM_001308164.2:c.966del (GFM1)	NP_001295093.1:p.Asn322LysfsTer8
NM_001308166.1:c.909del (GFM1)	NP_001295095.1:p.Asn303LysfsTer8
NM_001308166.2:c.909del (GFM1)	NP_001295095.1:p.Asn303LysfsTer8
NM_001374355.1:c.966del (GFM1)	NP_001361284.1:p.Asn322LysfsTer8
NM_001374356.1:c.792del (GFM1)	NP_001361285.1:p.Asn264LysfsTer8
NM_001374357.1:c.684del (GFM1)	NP_001361286.1:p.Asn228LysfsTer8
NM_001374358.1:c.450del (GFM1)	NP_001361287.1:p.Asn150LysfsTer8
NM_001374359.1:c.342del (GFM1)	NP_001361288.1:p.Asn114LysfsTer8
NM_001374360.1:c.342del (GFM1)	NP_001361289.1:p.Asn114LysfsTer8
NM_001374361.1:c.225del (GFM1)	NP_001361290.1:p.Asn75LysfsTer8
NM_024996.5:c.909del (GFM1)	NP_079272.4:p.Asn303LysfsTer8
NR_164499.1:n.1017del (GFM1)
NR_164500.1:n.1017del (GFM1)
NR_164501.1:n.562del (GFM1)
NR_164502.1:n.896del (GFM1)
ENST00000264263.9:c.966del (GFM1)	ENSP00000264263.5:p.Asn322LysfsTer8
ENST00000312756.4:n.118del (GFM1)
ENST00000478254.5:c.909del (GFM1)	ENSP00000417225.1:p.Asn303LysfsTer8
ENST00000478576.5:c.909del (GFM1)	ENSP00000418755.1:p.Asn303LysfsTer8
ENST00000482640.5:c.362-7169del (LXN)
ENST00000486715.5:c.909del (GFM1)	ENSP00000419038.1:p.Asn303LysfsTer8
XM_006713795.1:c.792del (GFM1)	XP_006713858.1:p.Asn264LysfsTer8
XM_006713795.2:c.792del (GFM1)	XP_006713858.1:p.Asn264LysfsTer8