Canonical Allele Identifier: CA2768882931

Gene: CSF1R

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.150073438dup , CM000667.2:g.150073438dup	GRCh38
NC_000005.9:g.149453001dup , CM000667.1:g.149453001dup	GRCh37
NC_000005.8:g.149433194dup	NCBI36
NG_012303.1:g.44939dup
NG_012303.2:g.44939dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000675795.1:c.949dup MANE Select	ENSP00000501699.1:p.Glu317GlyfsTer19
ENST00000286301.7:c.949dup	ENSP00000286301.3:p.Glu317GlyfsTer19
ENST00000504875.5:c.949dup	ENSP00000422212.1:p.Glu317GlyfsTer19
ENST00000543093.1:c.890-2863dup	ENSP00000445282.1:n.890-2863dup
NM_001288705.1:c.949dup	NP_001275634.1:p.Glu317GlyfsTer19
NM_005211.3:c.949dup	NP_005202.2:p.Glu317GlyfsTer19
NR_109969.1:n.1162dup
NM_001288705.2:c.949dup	NP_001275634.1:p.Glu317GlyfsTer19
NM_001349736.1:c.949dup	NP_001336665.1:p.Glu317GlyfsTer19
NM_001288705.3:c.949dup MANE Select	NP_001275634.1:p.Glu317GlyfsTer19
NM_001375320.1:c.949dup	NP_001362249.1:p.Glu317GlyfsTer19
NM_001375321.1:c.505dup	NP_001362250.1:p.Glu169GlyfsTer19
NR_164679.1:n.1005dup
NM_001349736.2:c.949dup	NP_001336665.1:p.Glu317GlyfsTer19
NM_005211.4:c.949dup	NP_005202.2:p.Glu317GlyfsTer19
NR_109969.2:n.1076dup