Canonical Allele Identifier: CA1082858388

Gene: CSF1R

Linked Data

• dbSNP Id: rs1758116222
• gnomAD v3: 5-150073445-ACCT-A
• gnomAD v4: 5-150073445-ACCT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.150073449_150073451del , CM000667.2:g.150073449_150073451del	GRCh38
NC_000005.9:g.149453012_149453014del , CM000667.1:g.149453012_149453014del	GRCh37
NC_000005.8:g.149433205_149433207del	NCBI36
NG_012303.1:g.44925_44927del
NG_012303.2:g.44925_44927del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000675795.1:c.935_937del MANE Select	ENSP00000501699.1:p.Glu312del
ENST00000286301.7:c.935_937del	ENSP00000286301.3:p.Glu312del
ENST00000504875.5:c.935_937del	ENSP00000422212.1:p.Glu312del
ENST00000543093.1:c.890-2877_890-2875del	ENSP00000445282.1:n.890-2877_890-2875del
NM_001288705.1:c.935_937del	NP_001275634.1:p.Glu312del
NM_005211.3:c.935_937del	NP_005202.2:p.Glu312del
NR_109969.1:n.1148_1150del
NM_001288705.2:c.935_937del	NP_001275634.1:p.Glu312del
NM_001349736.1:c.935_937del	NP_001336665.1:p.Glu312del
NM_001288705.3:c.935_937del MANE Select	NP_001275634.1:p.Glu312del
NM_001375320.1:c.935_937del	NP_001362249.1:p.Glu312del
NM_001375321.1:c.491_493del	NP_001362250.1:p.Glu164del
NR_164679.1:n.991_993del
NM_001349736.2:c.935_937del	NP_001336665.1:p.Glu312del
NM_005211.4:c.935_937del	NP_005202.2:p.Glu312del
NR_109969.2:n.1062_1064del