Canonical Allele Identifier: CA1590777590
Gene: CSF1R HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.150070442_150070443delinsGC , CM000667.2:g.150070442_150070443delinsGC GRCh38
NC_000005.9:g.149450005_149450006delinsGC , CM000667.1:g.149450005_149450006delinsGC GRCh37
NC_000005.8:g.149430198_149430199delinsGC NCBI36
NG_012303.1:g.47930_47931delinsGC
NG_012303.2:g.47930_47931delinsGC

Transcript Alleles

HGVS Amino-acid Change
ENST00000675795.1:c.1198+13_1198+14delinsGC MANE Select ENSP00000501699.1:n.1198+13_1198+14delinsGC
ENST00000286301.7:c.1198+13_1198+14delinsGC ENSP00000286301.3:n.1198+13_1198+14delinsGC
ENST00000504875.5:c.1198+13_1198+14delinsGC ENSP00000422212.1:n.1198+13_1198+14delinsGC
NM_001288705.1:c.1198+13_1198+14delinsGC NP_001275634.1:n.1198+13_1198+14delinsGC
NM_005211.3:c.1198+13_1198+14delinsGC NP_005202.2:n.1198+13_1198+14delinsGC
NR_109969.1:n.1411+13_1411+14delinsGC
NM_001288705.2:c.1198+13_1198+14delinsGC NP_001275634.1:n.1198+13_1198+14delinsGC
NM_001349736.1:c.1198+13_1198+14delinsGC NP_001336665.1:n.1198+13_1198+14delinsGC
NM_001288705.3:c.1198+13_1198+14delinsGC MANE Select NP_001275634.1:n.1198+13_1198+14delinsGC
NM_001375320.1:c.1198+13_1198+14delinsGC NP_001362249.1:n.1198+13_1198+14delinsGC
NM_001375321.1:c.754+13_754+14delinsGC NP_001362250.1:n.754+13_754+14delinsGC
NR_164679.1:n.1254+13_1254+14delinsGC
NM_001349736.2:c.1198+13_1198+14delinsGC NP_001336665.1:n.1198+13_1198+14delinsGC
NM_005211.4:c.1198+13_1198+14delinsGC NP_005202.2:n.1198+13_1198+14delinsGC
NR_109969.2:n.1325+13_1325+14delinsGC