Canonical Allele Identifier: CA2675956244

Gene: CSF1R

Linked Data

• gnomAD v4: 5-150073393-GC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.150073395del , CM000667.2:g.150073395del	GRCh38
NC_000005.9:g.149452958del , CM000667.1:g.149452958del	GRCh37
NC_000005.8:g.149433151del	NCBI36
NG_012303.1:g.44979del
NG_012303.2:g.44979del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000675795.1:c.989del MANE Select	ENSP00000501699.1:p.Gly330AlafsTer?
ENST00000286301.7:c.989del	ENSP00000286301.3:p.Gly330AlafsTer?
ENST00000504875.5:c.989del	ENSP00000422212.1:p.Gly330AlafsTer?
ENST00000543093.1:c.890-2823del	ENSP00000445282.1:n.890-2823del
NM_001288705.1:c.989del	NP_001275634.1:p.Gly330AlafsTer?
NM_005211.3:c.989del	NP_005202.2:p.Gly330AlafsTer?
NR_109969.1:n.1202del
NM_001288705.2:c.989del	NP_001275634.1:p.Gly330AlafsTer?
NM_001349736.1:c.989del	NP_001336665.1:p.Gly330AlafsTer?
NM_001288705.3:c.989del MANE Select	NP_001275634.1:p.Gly330AlafsTer?
NM_001375320.1:c.989del	NP_001362249.1:p.Gly330AlafsTer?
NM_001375321.1:c.545del	NP_001362250.1:p.Gly182AlafsTer?
NR_164679.1:n.1045del
NM_001349736.2:c.989del	NP_001336665.1:p.Gly330AlafsTer?
NM_005211.4:c.989del	NP_005202.2:p.Gly330AlafsTer?
NR_109969.2:n.1116del