Canonical Allele Identifier: CA2675956484

Gene: CSF1R

Linked Data

• gnomAD v4: 5-150057214-CCAT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.150057216_150057218del , CM000667.2:g.150057216_150057218del	GRCh38
NC_000005.9:g.149436779_149436781del , CM000667.1:g.149436779_149436781del	GRCh37
NC_000005.8:g.149416972_149416974del	NCBI36
NG_012303.1:g.61156_61158del
NG_012303.2:g.61156_61158del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000675795.1:c.2319+70_2319+72del MANE Select	ENSP00000501699.1:n.2319+70_2319+72del
ENST00000286301.7:c.2319+70_2319+72del	ENSP00000286301.3:n.2319+70_2319+72del
ENST00000504875.5:c.*140+70_*140+72del	ENSP00000422212.1:n.*140+70_*140+72del
ENST00000515068.1:c.488+70_488+72del	ENSP00000427545.1:n.488+70_488+72del
NM_001288705.1:c.2319+70_2319+72del	NP_001275634.1:n.2319+70_2319+72del
NM_005211.3:c.2319+70_2319+72del	NP_005202.2:n.2319+70_2319+72del
NR_109969.1:n.2369+70_2369+72del
NM_001288705.2:c.2319+70_2319+72del	NP_001275634.1:n.2319+70_2319+72del
NM_001349736.1:c.2319+70_2319+72del	NP_001336665.1:n.2319+70_2319+72del
NM_001288705.3:c.2319+70_2319+72del MANE Select	NP_001275634.1:n.2319+70_2319+72del
NM_001375320.1:c.2319+70_2319+72del	NP_001362249.1:n.2319+70_2319+72del
NM_001375321.1:c.1875+70_1875+72del	NP_001362250.1:n.1875+70_1875+72del
NR_164679.1:n.2212+70_2212+72del
NM_001349736.2:c.2319+70_2319+72del	NP_001336665.1:n.2319+70_2319+72del
NM_005211.4:c.2319+70_2319+72del	NP_005202.2:n.2319+70_2319+72del
NR_109969.2:n.2283+70_2283+72del