Canonical Allele Identifier: CA3507006

Gene: CSF1R

Linked Data

• dbSNP Id: rs773319877
• ExAC: 5:149453106 GTTTA / G
• gnomAD v2: 5-149453106-GTTTA-G
• gnomAD v3: 5-150073543-GTTTA-G
• gnomAD v4: 5-150073543-GTTTA-G
• MyVariant Identifiers: chr5:g.149453107_149453110del (hg19) ; chr5:g.150073544_150073547del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.150073547_150073550del , CM000667.2:g.150073547_150073550del	GRCh38
NC_000005.9:g.149453110_149453113del , CM000667.1:g.149453110_149453113del	GRCh37
NC_000005.8:g.149433303_149433306del	NCBI36
NG_012303.1:g.44826_44829del
NG_012303.2:g.44826_44829del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000675795.1:c.890-54_890-51del MANE Select	ENSP00000501699.1:n.890-54_890-51del
ENST00000286301.7:c.890-54_890-51del	ENSP00000286301.3:n.890-54_890-51del
ENST00000504875.5:c.890-54_890-51del	ENSP00000422212.1:n.890-54_890-51del
ENST00000543093.1:c.890-2976_890-2973del	ENSP00000445282.1:n.890-2976_890-2973del
NM_001288705.1:c.890-54_890-51del	NP_001275634.1:n.890-54_890-51del
NM_005211.3:c.890-54_890-51del	NP_005202.2:n.890-54_890-51del
NR_109969.1:n.1103-54_1103-51del
NM_001288705.2:c.890-54_890-51del	NP_001275634.1:n.890-54_890-51del
NM_001349736.1:c.890-54_890-51del	NP_001336665.1:n.890-54_890-51del
NM_001288705.3:c.890-54_890-51del MANE Select	NP_001275634.1:n.890-54_890-51del
NM_001375320.1:c.890-54_890-51del	NP_001362249.1:n.890-54_890-51del
NM_001375321.1:c.446-54_446-51del	NP_001362250.1:n.446-54_446-51del
NR_164679.1:n.946-54_946-51del
NM_001349736.2:c.890-54_890-51del	NP_001336665.1:n.890-54_890-51del
NM_005211.4:c.890-54_890-51del	NP_005202.2:n.890-54_890-51del
NR_109969.2:n.1017-54_1017-51del