Canonical Allele Identifier: CA2580073858

Gene: CSF1R

Linked Data

• ClinVar Variation Id: 1936321
• ClinVar RCV Id: RCV002636357

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.150073352_150073353delinsAA , CM000667.2:g.150073352_150073353delinsAA	GRCh38
NC_000005.9:g.149452915_149452916delinsAA , CM000667.1:g.149452915_149452916delinsAA	GRCh37
NC_000005.8:g.149433108_149433109delinsAA	NCBI36
NG_012303.1:g.45020_45021delinsTT
NG_012303.2:g.45020_45021delinsTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000675795.1:c.1030_1031delinsTT MANE Select	ENSP00000501699.1:p.Asp344Phe
ENST00000286301.7:c.1030_1031delinsTT	ENSP00000286301.3:p.Asp344Phe
ENST00000504875.5:c.1030_1031delinsTT	ENSP00000422212.1:p.Asp344Phe
ENST00000543093.1:c.890-2782_890-2781delinsTT	ENSP00000445282.1:n.890-2782_890-2781delinsTT
NM_001288705.1:c.1030_1031delinsTT	NP_001275634.1:p.Asp344Phe
NM_005211.3:c.1030_1031delinsTT	NP_005202.2:p.Asp344Phe
NR_109969.1:n.1243_1244delinsTT
NM_001288705.2:c.1030_1031delinsTT	NP_001275634.1:p.Asp344Phe
NM_001349736.1:c.1030_1031delinsTT	NP_001336665.1:p.Asp344Phe
NM_001288705.3:c.1030_1031delinsTT MANE Select	NP_001275634.1:p.Asp344Phe
NM_001375320.1:c.1030_1031delinsTT	NP_001362249.1:p.Asp344Phe
NM_001375321.1:c.586_587delinsTT	NP_001362250.1:p.Asp196Phe
NR_164679.1:n.1086_1087delinsTT
NM_001349736.2:c.1030_1031delinsTT	NP_001336665.1:p.Asp344Phe
NM_005211.4:c.1030_1031delinsTT	NP_005202.2:p.Asp344Phe
NR_109969.2:n.1157_1158delinsTT