Canonical Allele Identifier: CA2843213054

Gene: CSF1R

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.150057334dup , CM000667.2:g.150057334dup	GRCh38
NC_000005.9:g.149436897dup , CM000667.1:g.149436897dup	GRCh37
NC_000005.8:g.149417090dup	NCBI36
NG_012303.1:g.61040dup
NG_012303.2:g.61040dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000675795.1:c.2273dup MANE Select	ENSP00000501699.1:p.Ser759LeufsTer25
ENST00000286301.7:c.2273dup	ENSP00000286301.3:p.Ser759LeufsTer25
ENST00000504875.5:c.*94dup	ENSP00000422212.1:n.*94dup
ENST00000515068.1:c.442dup	ENSP00000427545.1:n.442dup
NM_001288705.1:c.2273dup	NP_001275634.1:p.Ser759LeufsTer25
NM_005211.3:c.2273dup	NP_005202.2:p.Ser759LeufsTer25
NR_109969.1:n.2323dup
NM_001288705.2:c.2273dup	NP_001275634.1:p.Ser759LeufsTer25
NM_001349736.1:c.2273dup	NP_001336665.1:p.Ser759LeufsTer25
NM_001288705.3:c.2273dup MANE Select	NP_001275634.1:p.Ser759LeufsTer25
NM_001375320.1:c.2273dup	NP_001362249.1:p.Ser759LeufsTer25
NM_001375321.1:c.1829dup	NP_001362250.1:p.Ser611LeufsTer25
NR_164679.1:n.2166dup
NM_001349736.2:c.2273dup	NP_001336665.1:p.Ser759LeufsTer25
NM_005211.4:c.2273dup	NP_005202.2:p.Ser759LeufsTer25
NR_109969.2:n.2237dup