Canonical Allele Identifier: CA2675956325

Gene: CSF1R

Linked Data

• gnomAD v4: 5-150073454-ATGAGGTTC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.150073457_150073464del , CM000667.2:g.150073457_150073464del	GRCh38
NC_000005.9:g.149453020_149453027del , CM000667.1:g.149453020_149453027del	GRCh37
NC_000005.8:g.149433213_149433220del	NCBI36
NG_012303.1:g.44911_44918del
NG_012303.2:g.44911_44918del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000675795.1:c.921_928del MANE Select	ENSP00000501699.1:p.Gln307HisfsTer26
ENST00000286301.7:c.921_928del	ENSP00000286301.3:p.Gln307HisfsTer26
ENST00000504875.5:c.921_928del	ENSP00000422212.1:p.Gln307HisfsTer26
ENST00000543093.1:c.890-2891_890-2884del	ENSP00000445282.1:n.890-2891_890-2884del
NM_001288705.1:c.921_928del	NP_001275634.1:p.Gln307HisfsTer26
NM_005211.3:c.921_928del	NP_005202.2:p.Gln307HisfsTer26
NR_109969.1:n.1134_1141del
NM_001288705.2:c.921_928del	NP_001275634.1:p.Gln307HisfsTer26
NM_001349736.1:c.921_928del	NP_001336665.1:p.Gln307HisfsTer26
NM_001288705.3:c.921_928del MANE Select	NP_001275634.1:p.Gln307HisfsTer26
NM_001375320.1:c.921_928del	NP_001362249.1:p.Gln307HisfsTer26
NM_001375321.1:c.477_484del	NP_001362250.1:p.Gln159HisfsTer26
NR_164679.1:n.977_984del
NM_001349736.2:c.921_928del	NP_001336665.1:p.Gln307HisfsTer26
NM_005211.4:c.921_928del	NP_005202.2:p.Gln307HisfsTer26
NR_109969.2:n.1048_1055del