Canonical Allele Identifier: CA120922452

Gene: GFM2

Linked Data

• ClinVar Variation Id: 440787
• ClinVar RCV Id: RCV000515499 ; RCV000767876
• dbSNP Id: rs746538436
• gnomAD v4: 5-74746137-CT-C
• MyVariant Identifiers: chr5:g.74041963del (hg19) ; chr5:g.74746138del (hg38)
• PubMed: PMID:29075935

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.74746138del , CM000667.2:g.74746138del	GRCh38
NC_000005.9:g.74041963del , CM000667.1:g.74041963del	GRCh37
NC_000005.8:g.74077719del	NCBI36
NG_011531.1:g.26080del

Transcript Alleles

HGVS	Amino-acid change
ENST00000296805.8:c.636del MANE Select	ENSP00000296805.3:p.Glu213ArgfsTer3
ENST00000296805.7:c.636del	ENSP00000296805.3:p.Glu213ArgfsTer3
ENST00000345239.6:c.636del	ENSP00000296804.3:p.Glu213ArgfsTer3
ENST00000427854.6:c.636del	ENSP00000405808.2:p.Glu213ArgfsTer3
ENST00000509097.1:c.510del	ENSP00000421717.1:p.Glu171ArgfsTer3
ENST00000509430.5:c.636del	ENSP00000427004.1:p.Glu213ArgfsTer3
NM_001281302.1:c.732del	NP_001268231.1:p.Glu245ArgfsTer3
NM_032380.4:c.636del	NP_115756.2:p.Glu213ArgfsTer3
NM_170681.2:c.636del	NP_733781.1:p.Glu213ArgfsTer3
NM_170691.2:c.636del	NP_733792.1:p.Glu213ArgfsTer3
NR_104006.1:n.1094del
XM_006714721.2:c.636del	XP_006714784.1:p.Glu213ArgfsTer3
XM_011543690.1:c.636del	XP_011541992.1:p.Glu213ArgfsTer3
XM_011543691.1:c.636del	XP_011541993.1:p.Glu213ArgfsTer3
XM_011543691.3:c.636del	XP_011541993.1:p.Glu213ArgfsTer3
XM_017009986.1:c.636del	XP_016865475.1:p.Glu213ArgfsTer3
XR_002956185.1:n.870del
NM_032380.5:c.636del MANE Select	NP_115756.2:p.Glu213ArgfsTer3
NM_001281302.2:c.732del	NP_001268231.1:p.Glu245ArgfsTer3
NM_170691.3:c.636del	NP_733792.1:p.Glu213ArgfsTer3
NR_104006.2:n.840del
NM_170681.3:c.636del	NP_733781.1:p.Glu213ArgfsTer3