Canonical Allele Identifier: CA2668341516

Gene: GFM1 LXN

Linked Data

• gnomAD v4: 3-158646882-TCTAA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.158646885_158646888del , CM000665.2:g.158646885_158646888del	GRCh38
NC_000003.11:g.158364674_158364677del , CM000665.1:g.158364674_158364677del	GRCh37
NC_000003.10:g.159847368_159847371del	NCBI36
NG_008441.1:g.7358_7361del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000486715.6:c.510_513del (GFM1) MANE Select	ENSP00000419038.1:p.Thr171LeufsTer19
ENST00000264263.9:c.510_513del (GFM1)	ENSP00000264263.5:p.Thr171LeufsTer19
ENST00000478254.5:c.510_513del (GFM1)	ENSP00000417225.1:p.Thr171LeufsTer19
ENST00000478576.5:c.510_513del (GFM1)	ENSP00000418755.1:p.Thr171LeufsTer19
ENST00000482640.5:c.362-677_362-674del (LXN)
ENST00000486715.5:c.510_513del (GFM1)	ENSP00000419038.1:p.Thr171LeufsTer19
NM_001308164.1:c.510_513del (GFM1)	NP_001295093.1:p.Thr171LeufsTer19
NM_001308166.1:c.510_513del (GFM1)	NP_001295095.1:p.Thr171LeufsTer19
NM_024996.5:c.510_513del (GFM1)	NP_079272.4:p.Thr171LeufsTer19
XM_006713795.1:c.510_513del (GFM1)	XP_006713858.1:p.Thr171LeufsTer19
XM_006713795.2:c.510_513del (GFM1)	XP_006713858.1:p.Thr171LeufsTer19
NM_001374355.1:c.510_513del (GFM1)	NP_001361284.1:p.Thr171LeufsTer19
NM_001374356.1:c.510_513del (GFM1)	NP_001361285.1:p.Thr171LeufsTer19
NM_001374357.1:c.285_288del (GFM1)	NP_001361286.1:p.Thr96LeufsTer19
NM_001374358.1:c.234+1104_234+1107del (GFM1)	NP_001361287.1:n.234+1104_234+1107del
NM_001374359.1:c.5+1104_5+1107del (GFM1)	NP_001361288.1:n.5+1104_5+1107del
NM_001374360.1:c.5+1104_5+1107del (GFM1)	NP_001361289.1:n.5+1104_5+1107del
NM_001374361.1:c.5+1104_5+1107del (GFM1)	NP_001361290.1:n.5+1104_5+1107del
NM_024996.7:c.510_513del (GFM1) MANE Select	NP_079272.4:p.Thr171LeufsTer19
NR_164499.1:n.618_621del (GFM1)
NR_164500.1:n.618_621del (GFM1)
NR_164501.1:n.342+1104_342+1107del (GFM1)
NR_164502.1:n.618_621del (GFM1)
NM_001308164.2:c.510_513del (GFM1)	NP_001295093.1:p.Thr171LeufsTer19
NM_001308166.2:c.510_513del (GFM1)	NP_001295095.1:p.Thr171LeufsTer19