Canonical Allele Identifier: CA1055459769

Gene: GFM1 LXN

Linked Data

• dbSNP Id: rs1721828259
• gnomAD v3: 3-158646649-TATGTG-T
• gnomAD v4: 3-158646649-TATGTG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.158646653_158646657del , CM000665.2:g.158646653_158646657del	GRCh38
NC_000003.11:g.158364442_158364446del , CM000665.1:g.158364442_158364446del	GRCh37
NC_000003.10:g.159847136_159847140del	NCBI36
NG_008441.1:g.7126_7130del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000486715.6:c.368-90_368-86del (GFM1) MANE Select	ENSP00000419038.1:n.368-90_368-86del
ENST00000264263.9:c.368-90_368-86del (GFM1)	ENSP00000264263.5:n.368-90_368-86del
ENST00000464732.1:c.143-90_143-86del (GFM1)	ENSP00000417532.1:n.143-90_143-86del
ENST00000478254.5:c.368-90_368-86del (GFM1)	ENSP00000417225.1:n.368-90_368-86del
ENST00000478576.5:c.368-90_368-86del (GFM1)	ENSP00000418755.1:n.368-90_368-86del
ENST00000482640.5:c.362-445_362-441del (LXN)
ENST00000486715.5:c.368-90_368-86del (GFM1)	ENSP00000419038.1:n.368-90_368-86del
NM_001308164.1:c.368-90_368-86del (GFM1)	NP_001295093.1:n.368-90_368-86del
NM_001308166.1:c.368-90_368-86del (GFM1)	NP_001295095.1:n.368-90_368-86del
NM_024996.5:c.368-90_368-86del (GFM1)	NP_079272.4:n.368-90_368-86del
XM_006713795.1:c.368-90_368-86del (GFM1)	XP_006713858.1:n.368-90_368-86del
XM_006713795.2:c.368-90_368-86del (GFM1)	XP_006713858.1:n.368-90_368-86del
NM_001374355.1:c.368-90_368-86del (GFM1)	NP_001361284.1:n.368-90_368-86del
NM_001374356.1:c.368-90_368-86del (GFM1)	NP_001361285.1:n.368-90_368-86del
NM_001374357.1:c.143-90_143-86del (GFM1)	NP_001361286.1:n.143-90_143-86del
NM_001374358.1:c.234+872_234+876del (GFM1)	NP_001361287.1:n.234+872_234+876del
NM_001374359.1:c.5+872_5+876del (GFM1)	NP_001361288.1:n.5+872_5+876del
NM_001374360.1:c.5+872_5+876del (GFM1)	NP_001361289.1:n.5+872_5+876del
NM_001374361.1:c.5+872_5+876del (GFM1)	NP_001361290.1:n.5+872_5+876del
NM_024996.7:c.368-90_368-86del (GFM1) MANE Select	NP_079272.4:n.368-90_368-86del
NR_164499.1:n.476-90_476-86del (GFM1)
NR_164500.1:n.476-90_476-86del (GFM1)
NR_164501.1:n.342+872_342+876del (GFM1)
NR_164502.1:n.476-90_476-86del (GFM1)
NM_001308164.2:c.368-90_368-86del (GFM1)	NP_001295093.1:n.368-90_368-86del
NM_001308166.2:c.368-90_368-86del (GFM1)	NP_001295095.1:n.368-90_368-86del