Canonical Allele Identifier: CA2695199320

Gene: GFM1

Linked Data

• ClinVar Variation Id: 2675899
• ClinVar RCV Id: RCV003468270

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.158645701_158645702del , CM000665.2:g.158645701_158645702del	GRCh38
NC_000003.11:g.158363490_158363491del , CM000665.1:g.158363490_158363491del	GRCh37
NC_000003.10:g.159846184_159846185del	NCBI36
NG_008441.1:g.6174_6175del

Transcript Alleles

HGVS	Amino-acid change
ENST00000486715.6:c.154_155del MANE Select	ENSP00000419038.1:p.Ala53SerfsTer3
ENST00000264263.9:c.154_155del	ENSP00000264263.5:p.Ala53SerfsTer3
ENST00000464732.1:c.-72_-71del	ENSP00000417532.1:n.-72_-71del
ENST00000478254.5:c.154_155del	ENSP00000417225.1:p.Ala53SerfsTer3
ENST00000478576.5:c.154_155del	ENSP00000418755.1:p.Ala53SerfsTer3
ENST00000486715.5:c.154_155del	ENSP00000419038.1:p.Ala53SerfsTer3
NM_001308164.1:c.154_155del	NP_001295093.1:p.Ala53SerfsTer3
NM_001308166.1:c.154_155del	NP_001295095.1:p.Ala53SerfsTer3
NM_024996.5:c.154_155del	NP_079272.4:p.Ala53SerfsTer3
XM_006713795.1:c.154_155del	XP_006713858.1:p.Ala53SerfsTer3
XM_006713795.2:c.154_155del	XP_006713858.1:p.Ala53SerfsTer3
NM_001374355.1:c.154_155del	NP_001361284.1:p.Ala53SerfsTer3
NM_001374356.1:c.154_155del	NP_001361285.1:p.Ala53SerfsTer3
NM_001374357.1:c.-72_-71del	NP_001361286.1:n.-72_-71del
NM_001374358.1:c.154_155del	NP_001361287.1:p.Ala53SerfsTer3
NM_001374359.1:c.-76_-75del	NP_001361288.1:n.-76_-75del
NM_001374360.1:c.-76_-75del	NP_001361289.1:n.-76_-75del
NM_001374361.1:c.-76_-75del	NP_001361290.1:n.-76_-75del
NM_024996.7:c.154_155del MANE Select	NP_079272.4:p.Ala53SerfsTer3
NR_164499.1:n.262_263del
NR_164500.1:n.262_263del
NR_164501.1:n.262_263del
NR_164502.1:n.262_263del
NM_001308164.2:c.154_155del	NP_001295093.1:p.Ala53SerfsTer3
NM_001308166.2:c.154_155del	NP_001295095.1:p.Ala53SerfsTer3