Canonical Allele Identifier: CA1082858405

Gene: CSF1R

Linked Data

• dbSNP Id: rs1758121394
• gnomAD v3: 5-150073523-A-ATTAGTGGGAAGATGTCCTTGTTTATTTG
• gnomAD v4: 5-150073523-A-ATTAGTGGGAAGATGTCCTTGTTTATTTG

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.150073525_150073552dup , CM000667.2:g.150073525_150073552dup	GRCh38
NC_000005.9:g.149453088_149453115dup , CM000667.1:g.149453088_149453115dup	GRCh37
NC_000005.8:g.149433281_149433308dup	NCBI36
NG_012303.1:g.44822_44849dup
NG_012303.2:g.44822_44849dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000675795.1:c.890-58_890-31dup MANE Select	ENSP00000501699.1:n.890-58_890-31dup
ENST00000286301.7:c.890-58_890-31dup	ENSP00000286301.3:n.890-58_890-31dup
ENST00000504875.5:c.890-58_890-31dup	ENSP00000422212.1:n.890-58_890-31dup
ENST00000543093.1:c.890-2980_890-2953dup	ENSP00000445282.1:n.890-2980_890-2953dup
NM_001288705.1:c.890-58_890-31dup	NP_001275634.1:n.890-58_890-31dup
NM_005211.3:c.890-58_890-31dup	NP_005202.2:n.890-58_890-31dup
NR_109969.1:n.1103-58_1103-31dup
NM_001288705.2:c.890-58_890-31dup	NP_001275634.1:n.890-58_890-31dup
NM_001349736.1:c.890-58_890-31dup	NP_001336665.1:n.890-58_890-31dup
NM_001288705.3:c.890-58_890-31dup MANE Select	NP_001275634.1:n.890-58_890-31dup
NM_001375320.1:c.890-58_890-31dup	NP_001362249.1:n.890-58_890-31dup
NM_001375321.1:c.446-58_446-31dup	NP_001362250.1:n.446-58_446-31dup
NR_164679.1:n.946-58_946-31dup
NM_001349736.2:c.890-58_890-31dup	NP_001336665.1:n.890-58_890-31dup
NM_005211.4:c.890-58_890-31dup	NP_005202.2:n.890-58_890-31dup
NR_109969.2:n.1017-58_1017-31dup