Canonical Allele Identifier: CA129070791

Gene: CSF1R

Linked Data

• dbSNP Id: rs576999417
• gnomAD v3: 5-150073819-AAC-A
• gnomAD v4: 5-150073819-AAC-A
• MyVariant Identifiers: chr5:g.149453383_149453384del (hg19) ; chr5:g.150073820_150073821del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.150073831_150073832del , CM000667.2:g.150073831_150073832del	GRCh38
NC_000005.9:g.149453394_149453395del , CM000667.1:g.149453394_149453395del	GRCh37
NC_000005.8:g.149433587_149433588del	NCBI36
NG_012303.1:g.44552_44553del
NG_012303.2:g.44552_44553del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000675795.1:c.890-328_890-327del MANE Select	ENSP00000501699.1:n.890-328_890-327del
ENST00000286301.7:c.890-328_890-327del	ENSP00000286301.3:n.890-328_890-327del
ENST00000504875.5:c.890-328_890-327del	ENSP00000422212.1:n.890-328_890-327del
ENST00000543093.1:c.890-3250_890-3249del	ENSP00000445282.1:n.890-3250_890-3249del
NM_001288705.1:c.890-328_890-327del	NP_001275634.1:n.890-328_890-327del
NM_005211.3:c.890-328_890-327del	NP_005202.2:n.890-328_890-327del
NR_109969.1:n.1103-328_1103-327del
NM_001288705.2:c.890-328_890-327del	NP_001275634.1:n.890-328_890-327del
NM_001349736.1:c.890-328_890-327del	NP_001336665.1:n.890-328_890-327del
NM_001288705.3:c.890-328_890-327del MANE Select	NP_001275634.1:n.890-328_890-327del
NM_001375320.1:c.890-328_890-327del	NP_001362249.1:n.890-328_890-327del
NM_001375321.1:c.446-328_446-327del	NP_001362250.1:n.446-328_446-327del
NR_164679.1:n.946-328_946-327del
NM_001349736.2:c.890-328_890-327del	NP_001336665.1:n.890-328_890-327del
NM_005211.4:c.890-328_890-327del	NP_005202.2:n.890-328_890-327del
NR_109969.2:n.1017-328_1017-327del