Canonical Allele Identifier: CA2519648523
Gene: CSF1R HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.150073481_150073487del , CM000667.2:g.150073481_150073487del GRCh38
NC_000005.9:g.149453044_149453050del , CM000667.1:g.149453044_149453050del GRCh37
NC_000005.8:g.149433237_149433243del NCBI36
NG_012303.1:g.44886_44892del
NG_012303.2:g.44886_44892del

Transcript Alleles

HGVS Amino-acid change
ENST00000675795.1:c.896_902del MANE Select ENSP00000501699.1:p.Ala299GlyfsTer3
ENST00000286301.7:c.896_902del ENSP00000286301.3:p.Ala299GlyfsTer3
ENST00000504875.5:c.896_902del ENSP00000422212.1:p.Ala299GlyfsTer3
ENST00000543093.1:c.890-2916_890-2910del ENSP00000445282.1:n.890-2916_890-2910del
NM_001288705.1:c.896_902del NP_001275634.1:p.Ala299GlyfsTer3
NM_005211.3:c.896_902del NP_005202.2:p.Ala299GlyfsTer3
NR_109969.1:n.1109_1115del
NM_001288705.2:c.896_902del NP_001275634.1:p.Ala299GlyfsTer3
NM_001349736.1:c.896_902del NP_001336665.1:p.Ala299GlyfsTer3
NM_001288705.3:c.896_902del MANE Select NP_001275634.1:p.Ala299GlyfsTer3
NM_001375320.1:c.896_902del NP_001362249.1:p.Ala299GlyfsTer3
NM_001375321.1:c.452_458del NP_001362250.1:p.Ala151GlyfsTer3
NR_164679.1:n.952_958del
NM_001349736.2:c.896_902del NP_001336665.1:p.Ala299GlyfsTer3
NM_005211.4:c.896_902del NP_005202.2:p.Ala299GlyfsTer3
NR_109969.2:n.1023_1029del