Canonical Allele Identifier: CA2578521997

Gene: CSF1R

Linked Data

• gnomAD v4: 5-150073225-C-CCAAG

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.150073227_150073230dup , CM000667.2:g.150073227_150073230dup	GRCh38
NC_000005.9:g.149452790_149452793dup , CM000667.1:g.149452790_149452793dup	GRCh37
NC_000005.8:g.149432983_149432986dup	NCBI36
NG_012303.1:g.45144_45147dup
NG_012303.2:g.45144_45147dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000675795.1:c.1082+72_1082+75dup MANE Select	ENSP00000501699.1:n.1082+72_1082+75dup
ENST00000286301.7:c.1082+72_1082+75dup	ENSP00000286301.3:n.1082+72_1082+75dup
ENST00000504875.5:c.1082+72_1082+75dup	ENSP00000422212.1:n.1082+72_1082+75dup
ENST00000543093.1:c.890-2658_890-2655dup	ENSP00000445282.1:n.890-2658_890-2655dup
NM_001288705.1:c.1082+72_1082+75dup	NP_001275634.1:n.1082+72_1082+75dup
NM_005211.3:c.1082+72_1082+75dup	NP_005202.2:n.1082+72_1082+75dup
NR_109969.1:n.1295+72_1295+75dup
NM_001288705.2:c.1082+72_1082+75dup	NP_001275634.1:n.1082+72_1082+75dup
NM_001349736.1:c.1082+72_1082+75dup	NP_001336665.1:n.1082+72_1082+75dup
NM_001288705.3:c.1082+72_1082+75dup MANE Select	NP_001275634.1:n.1082+72_1082+75dup
NM_001375320.1:c.1082+72_1082+75dup	NP_001362249.1:n.1082+72_1082+75dup
NM_001375321.1:c.638+72_638+75dup	NP_001362250.1:n.638+72_638+75dup
NR_164679.1:n.1138+72_1138+75dup
NM_001349736.2:c.1082+72_1082+75dup	NP_001336665.1:n.1082+72_1082+75dup
NM_005211.4:c.1082+72_1082+75dup	NP_005202.2:n.1082+72_1082+75dup
NR_109969.2:n.1209+72_1209+75dup