Canonical Allele Identifier: CA805573507

Gene: CSF1R

Linked Data

• dbSNP Id: rs1425334178
• gnomAD v3: 5-150073143-GGAT-G
• gnomAD v4: 5-150073143-GGAT-G
• MyVariant Identifiers: chr5:g.149452707_149452709del (hg19) ; chr5:g.150073144_150073146del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.150073144_150073146del , CM000667.2:g.150073144_150073146del	GRCh38
NC_000005.9:g.149452707_149452709del , CM000667.1:g.149452707_149452709del	GRCh37
NC_000005.8:g.149432900_149432902del	NCBI36
NG_012303.1:g.45227_45229del
NG_012303.2:g.45227_45229del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000675795.1:c.1082+155_1082+157del MANE Select	ENSP00000501699.1:n.1082+155_1082+157del
ENST00000286301.7:c.1082+155_1082+157del	ENSP00000286301.3:n.1082+155_1082+157del
ENST00000504875.5:c.1082+155_1082+157del	ENSP00000422212.1:n.1082+155_1082+157del
ENST00000543093.1:c.890-2575_890-2573del	ENSP00000445282.1:n.890-2575_890-2573del
NM_001288705.1:c.1082+155_1082+157del	NP_001275634.1:n.1082+155_1082+157del
NM_005211.3:c.1082+155_1082+157del	NP_005202.2:n.1082+155_1082+157del
NR_109969.1:n.1295+155_1295+157del
NM_001288705.2:c.1082+155_1082+157del	NP_001275634.1:n.1082+155_1082+157del
NM_001349736.1:c.1082+155_1082+157del	NP_001336665.1:n.1082+155_1082+157del
NM_001288705.3:c.1082+155_1082+157del MANE Select	NP_001275634.1:n.1082+155_1082+157del
NM_001375320.1:c.1082+155_1082+157del	NP_001362249.1:n.1082+155_1082+157del
NM_001375321.1:c.638+155_638+157del	NP_001362250.1:n.638+155_638+157del
NR_164679.1:n.1138+155_1138+157del
NM_001349736.2:c.1082+155_1082+157del	NP_001336665.1:n.1082+155_1082+157del
NM_005211.4:c.1082+155_1082+157del	NP_005202.2:n.1082+155_1082+157del
NR_109969.2:n.1209+155_1209+157del