Canonical Allele Identifier: CA2839921912
Gene: CSF1R HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.150057300del , CM000667.2:g.150057300del GRCh38
NC_000005.9:g.149436863del , CM000667.1:g.149436863del GRCh37
NC_000005.8:g.149417056del NCBI36
NG_012303.1:g.61073del
NG_012303.2:g.61073del

Transcript Alleles

HGVS Amino-acid Change
ENST00000675795.1:c.2306del MANE Select ENSP00000501699.1:p.Leu769ProfsTer18
ENST00000286301.7:c.2306del ENSP00000286301.3:p.Leu769ProfsTer18
ENST00000504875.5:c.*127del ENSP00000422212.1:n.*127del
ENST00000515068.1:c.475del ENSP00000427545.1:n.475del
NM_001288705.1:c.2306del NP_001275634.1:p.Leu769ProfsTer18
NM_005211.3:c.2306del NP_005202.2:p.Leu769ProfsTer18
NR_109969.1:n.2356del
NM_001288705.2:c.2306del NP_001275634.1:p.Leu769ProfsTer18
NM_001349736.1:c.2306del NP_001336665.1:p.Leu769ProfsTer18
NM_001288705.3:c.2306del MANE Select NP_001275634.1:p.Leu769ProfsTer18
NM_001375320.1:c.2306del NP_001362249.1:p.Leu769ProfsTer18
NM_001375321.1:c.1862del NP_001362250.1:p.Leu621ProfsTer18
NR_164679.1:n.2199del
NM_001349736.2:c.2306del NP_001336665.1:p.Leu769ProfsTer18
NM_005211.4:c.2306del NP_005202.2:p.Leu769ProfsTer18
NR_109969.2:n.2270del