Canonical Allele Identifier: CA2675955701
Gene: CSF1R HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.150073166_150073167del , CM000667.2:g.150073166_150073167del GRCh38
NC_000005.9:g.149452729_149452730del , CM000667.1:g.149452729_149452730del GRCh37
NC_000005.8:g.149432922_149432923del NCBI36
NG_012303.1:g.45207_45208del
NG_012303.2:g.45207_45208del

Transcript Alleles

HGVS Amino-acid Change
ENST00000675795.1:c.1082+135_1082+136del MANE Select ENSP00000501699.1:n.1082+135_1082+136del
ENST00000286301.7:c.1082+135_1082+136del ENSP00000286301.3:n.1082+135_1082+136del
ENST00000504875.5:c.1082+135_1082+136del ENSP00000422212.1:n.1082+135_1082+136del
ENST00000543093.1:c.890-2595_890-2594del ENSP00000445282.1:n.890-2595_890-2594del
NM_001288705.1:c.1082+135_1082+136del NP_001275634.1:n.1082+135_1082+136del
NM_005211.3:c.1082+135_1082+136del NP_005202.2:n.1082+135_1082+136del
NR_109969.1:n.1295+135_1295+136del
NM_001288705.2:c.1082+135_1082+136del NP_001275634.1:n.1082+135_1082+136del
NM_001349736.1:c.1082+135_1082+136del NP_001336665.1:n.1082+135_1082+136del
NM_001288705.3:c.1082+135_1082+136del MANE Select NP_001275634.1:n.1082+135_1082+136del
NM_001375320.1:c.1082+135_1082+136del NP_001362249.1:n.1082+135_1082+136del
NM_001375321.1:c.638+135_638+136del NP_001362250.1:n.638+135_638+136del
NR_164679.1:n.1138+135_1138+136del
NM_001349736.2:c.1082+135_1082+136del NP_001336665.1:n.1082+135_1082+136del
NM_005211.4:c.1082+135_1082+136del NP_005202.2:n.1082+135_1082+136del
NR_109969.2:n.1209+135_1209+136del