Canonical Allele Identifier: CA048698
Community Standard Title: NM_000760.4(CSF3R):c.1245del (p.Thr416ProfsTer17)
Gene: CSF3R HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.36471475del , CM000663.2:g.36471475del GRCh38
NC_000001.10:g.36937076del , CM000663.1:g.36937076del GRCh37
NC_000001.9:g.36709663del NCBI36
NG_016270.1:g.16436del , LRG_144:g.16436del

Transcript Alleles

HGVS Amino-acid Change
NM_000760.4:c.1245del MANE Select NP_000751.1:p.Thr416ProfsTer17
ENST00000373106.6:c.1245del MANE Select ENSP00000362198.2:p.Thr416ProfsTer17
NM_000760.3:c.1245del NP_000751.1:p.Thr416ProfsTer17
NM_156039.3:c.1245del , LRG_144t1:c.1245del NP_724781.1:p.Thr416ProfsTer17
NM_172313.2:c.1245del NP_758519.1:p.Thr416ProfsTer17
NM_172313.3:c.1245del NP_758519.1:p.Thr416ProfsTer17
ENST00000331941.6:c.1245del ENSP00000332180.5:p.Thr416ProfsTer17
ENST00000361632.8:c.1245del ENSP00000355406.4:p.Thr416ProfsTer17
ENST00000373103.5:c.1245del ENSP00000362195.1:p.Thr416ProfsTer17
ENST00000373104.5:c.1245del ENSP00000362196.1:p.Thr416ProfsTer17
ENST00000373106.5:c.1245del ENSP00000362198.1:p.Thr416ProfsTer17
ENST00000464365.2:n.920del
ENST00000464365.3:n.2103del
ENST00000464465.7:c.1245del ENSP00000435218.2:p.Thr416ProfsTer17
ENST00000480825.6:n.3047del
ENST00000487540.6:n.398del
ENST00000487540.7:c.1245del ENSP00000514169.2:p.Thr416ProfsTer17
ENST00000699089.1:n.2225del
ENST00000699090.1:c.849del ENSP00000514168.1:p.Thr284ProfsTer17
XM_005270493.1:c.1245del XP_005270550.1:p.Thr416ProfsTer17
XM_011540748.1:c.1245del XP_011539050.1:p.Thr416ProfsTer17
XM_011540748.3:c.1245del XP_011539050.1:p.Thr416ProfsTer17
XM_011540749.1:c.1245del XP_011539051.1:p.Thr416ProfsTer17
XM_011540750.1:c.573del XP_011539052.1:p.Thr192ProfsTer17
XM_017000370.1:c.1245del XP_016855859.1:p.Thr416ProfsTer17
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