Canonical Allele Identifier: CA1590772973

Gene: CSF1R

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.150057373_150057376delinsCCTT , CM000667.2:g.150057373_150057376delinsCCTT	GRCh38
NC_000005.9:g.149436936_149436939delinsCCTT , CM000667.1:g.149436936_149436939delinsCCTT	GRCh37
NC_000005.8:g.149417129_149417132delinsCCTT	NCBI36
NG_012303.1:g.60997_61000delinsAAGG
NG_012303.2:g.60997_61000delinsAAGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000675795.1:c.2230_2233delinsAAGG MANE Select	ENSP00000501699.1:p.Lys744=
ENST00000286301.7:c.2230_2233delinsAAGG	ENSP00000286301.3:p.Lys744=
ENST00000504875.5:c.*51_*54delinsAAGG	ENSP00000422212.1:n.*51_*54delinsAAGG
ENST00000515068.1:c.399_402delinsAAGG	ENSP00000427545.1:n.399_402delinsAAGG
NM_001288705.1:c.2230_2233delinsAAGG	NP_001275634.1:p.Lys744=
NM_005211.3:c.2230_2233delinsAAGG	NP_005202.2:p.Lys744=
NR_109969.1:n.2280_2283delinsAAGG
NM_001288705.2:c.2230_2233delinsAAGG	NP_001275634.1:p.Lys744=
NM_001349736.1:c.2230_2233delinsAAGG	NP_001336665.1:p.Lys744=
NM_001288705.3:c.2230_2233delinsAAGG MANE Select	NP_001275634.1:p.Lys744=
NM_001375320.1:c.2230_2233delinsAAGG	NP_001362249.1:p.Lys744=
NM_001375321.1:c.1786_1789delinsAAGG	NP_001362250.1:p.Lys596=
NR_164679.1:n.2123_2126delinsAAGG
NM_001349736.2:c.2230_2233delinsAAGG	NP_001336665.1:p.Lys744=
NM_005211.4:c.2230_2233delinsAAGG	NP_005202.2:p.Lys744=
NR_109969.2:n.2194_2197delinsAAGG