Canonical Allele Identifier: CA2692961765

Gene: CSF2RA

Linked Data

• gnomAD v4: X-1294097-T-TACCTGGACCCAGTGTAGACAGGAGAAGACTCTGCACCACCTCCACCTAGACCCAGTGTAGACAGGAGGAGACCCTGCCCCACCTCC

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.1294121_1294122insAAGACTCTGCACCACCTCCACCTAGACCCAGTGTAGACAGGAGGAGACCCTGCCCCACCTCCACCTGGACCCAGTGTAGACAGGAG , CM000685.2:g.1294121_1294122insAAGACTCTGCACCACCTCCACCTAGACCCAGTGTAGACAGGAGGAGACCCTGCCCCACCTCCACCTGGACCCAGTGTAGACAGGAG	GRCh38
NC_000023.10:g.1413014_1413015insAAGACTCTGCACCACCTCCACCTAGACCCAGTGTAGACAGGAGGAGACCCTGCCCCACCTCCACCTGGACCCAGTGTAGACAGGAG , CM000685.1:g.1413014_1413015insAAGACTCTGCACCACCTCCACCTAGACCCAGTGTAGACAGGAGGAGACCCTGCCCCACCTCCACCTGGACCCAGTGTAGACAGGAG	GRCh37
NC_000023.9:g.1373014_1373015insAAGACTCTGCACCACCTCCACCTAGACCCAGTGTAGACAGGAGGAGACCCTGCCCCACCTCCACCTGGACCCAGTGTAGACAGGAG	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000498153.7:c.647-207_647-206insAAGACTCTGCACCACCTCCACCTAGACCCAGTGTAGACAGGAGGAGACCCTGCCCCACCTCCACCTGGACCCAGTGTAGACAGGAG	ENSP00000512483.1:n.647-207_647-206insAAGACTCTGCACCACCTCCACCT...
ENST00000696230.1:c.*730-207_*730-206insAAGACTCTGCACCACCTCCACCTAGACCCAGTGTAGACAGGAGGAGACCCTGCCCCACCTCCACCTGGACCCAGTGTAGACAGGAG	ENSP00000512496.1:n.*730-207_*730-206insAAGACTCTGCACCACCTCCAC...
ENST00000381529.9:c.647-207_647-206insAAGACTCTGCACCACCTCCACCTAGACCCAGTGTAGACAGGAGGAGACCCTGCCCCACCTCCACCTGGACCCAGTGTAGACAGGAG MANE Select	ENSP00000370940.3:n.647-207_647-206insAAGACTCTGCACCACCTCCACCT...
ENST00000432318.8:c.647-207_647-206insAAGACTCTGCACCACCTCCACCTAGACCCAGTGTAGACAGGAGGAGACCCTGCCCCACCTCCACCTGGACCCAGTGTAGACAGGAG	ENSP00000416437.2:n.647-207_647-206insAAGACTCTGCACCACCTCCACCT...
ENST00000355432.8:c.647-207_647-206insAAGACTCTGCACCACCTCCACCTAGACCCAGTGTAGACAGGAGGAGACCCTGCCCCACCTCCACCTGGACCCAGTGTAGACAGGAG	ENSP00000347606.3:n.647-207_647-206insAAGACTCTGCACCACCTCCACCT...
ENST00000355805.7:c.646+3612_646+3613insAAGACTCTGCACCACCTCCACCTAGACCCAGTGTAGACAGGAGGAGACCCTGCCCCACCTCCACCTGGACCCAGTGTAGACAGGAG	ENSP00000348058.2:n.646+3612_646+3613insAAGACTCTGCACCACCTCCAC...
ENST00000381500.6:c.647-207_647-206insAAGACTCTGCACCACCTCCACCTAGACCCAGTGTAGACAGGAGGAGACCCTGCCCCACCTCCACCTGGACCCAGTGTAGACAGGAG	ENSP00000370911.1:n.647-207_647-206insAAGACTCTGCACCACCTCCACCT...
ENST00000381509.8:c.647-207_647-206insAAGACTCTGCACCACCTCCACCTAGACCCAGTGTAGACAGGAGGAGACCCTGCCCCACCTCCACCTGGACCCAGTGTAGACAGGAG	ENSP00000370920.3:n.647-207_647-206insAAGACTCTGCACCACCTCCACCT...
ENST00000381524.8:c.647-207_647-206insAAGACTCTGCACCACCTCCACCTAGACCCAGTGTAGACAGGAGGAGACCCTGCCCCACCTCCACCTGGACCCAGTGTAGACAGGAG	ENSP00000370935.3:n.647-207_647-206insAAGACTCTGCACCACCTCCACCT...
ENST00000381529.8:c.647-207_647-206insAAGACTCTGCACCACCTCCACCTAGACCCAGTGTAGACAGGAGGAGACCCTGCCCCACCTCCACCTGGACCCAGTGTAGACAGGAG	ENSP00000370940.3:n.647-207_647-206insAAGACTCTGCACCACCTCCACCT...
ENST00000412290.6:c.647-207_647-206insAAGACTCTGCACCACCTCCACCTAGACCCAGTGTAGACAGGAGGAGACCCTGCCCCACCTCCACCTGGACCCAGTGTAGACAGGAG	ENSP00000410667.1:n.647-207_647-206insAAGACTCTGCACCACCTCCACCT...
ENST00000417535.7:c.647-207_647-206insAAGACTCTGCACCACCTCCACCTAGACCCAGTGTAGACAGGAGGAGACCCTGCCCCACCTCCACCTGGACCCAGTGTAGACAGGAG	ENSP00000394227.2:n.647-207_647-206insAAGACTCTGCACCACCTCCACCT...
ENST00000432318.7:c.647-207_647-206insAAGACTCTGCACCACCTCCACCTAGACCCAGTGTAGACAGGAGGAGACCCTGCCCCACCTCCACCTGGACCCAGTGTAGACAGGAG	ENSP00000416437.2:n.647-207_647-206insAAGACTCTGCACCACCTCCACCT...
ENST00000475259.6:n.58-207_58-206insAAGACTCTGCACCACCTCCACCTAGACCCAGTGTAGACAGGAGGAGACCCTGCCCCACCTCCACCTGGACCCAGTGTAGACAGGAG
ENST00000486791.6:c.647-207_647-206insAAGACTCTGCACCACCTCCACCTAGACCCAGTGTAGACAGGAGGAGACCCTGCCCCACCTCCACCTGGACCCAGTGTAGACAGGAG	ENSP00000436825.1:n.647-207_647-206insAAGACTCTGCACCACCTCCACCT...
ENST00000493312.6:n.684-207_684-206insAAGACTCTGCACCACCTCCACCTAGACCCAGTGTAGACAGGAGGAGACCCTGCCCCACCTCCACCTGGACCCAGTGTAGACAGGAG
ENST00000494969.7:c.244+6923_244+6924insAAGACTCTGCACCACCTCCACCTAGACCCAGTGTAGACAGGAGGAGACCCTGCCCCACCTCCACCTGGACCCAGTGTAGACAGGAG	ENSP00000476684.1:n.244+6923_244+6924insAAGACTCTGCACCACCTCCAC...
ENST00000501036.7:c.248-207_248-206insAAGACTCTGCACCACCTCCACCTAGACCCAGTGTAGACAGGAGGAGACCCTGCCCCACCTCCACCTGGACCCAGTGTAGACAGGAG	ENSP00000440491.1:n.248-207_248-206insAAGACTCTGCACCACCTCCACCT...
XM_011546165.1:c.647-207_647-206insAAGACTCTGCACCACCTCCACCTAGACCCAGTGTAGACAGGAGGAGACCCTGCCCCACCTCCACCTGGACCCAGTGTAGACAGGAG	XP_011544467.1:n.647-207_647-206insAAGACTCTGCACCACCTCCACCTAGA...
XM_011546166.1:c.647-207_647-206insAAGACTCTGCACCACCTCCACCTAGACCCAGTGTAGACAGGAGGAGACCCTGCCCCACCTCCACCTGGACCCAGTGTAGACAGGAG	XP_011544468.1:n.647-207_647-206insAAGACTCTGCACCACCTCCACCTAGA...
XM_011546167.1:c.647-207_647-206insAAGACTCTGCACCACCTCCACCTAGACCCAGTGTAGACAGGAGGAGACCCTGCCCCACCTCCACCTGGACCCAGTGTAGACAGGAG	XP_011544469.1:n.647-207_647-206insAAGACTCTGCACCACCTCCACCTAGA...
XM_011546168.1:c.647-207_647-206insAAGACTCTGCACCACCTCCACCTAGACCCAGTGTAGACAGGAGGAGACCCTGCCCCACCTCCACCTGGACCCAGTGTAGACAGGAG	XP_011544470.1:n.647-207_647-206insAAGACTCTGCACCACCTCCACCTAGA...
XM_011546169.1:c.647-207_647-206insAAGACTCTGCACCACCTCCACCTAGACCCAGTGTAGACAGGAGGAGACCCTGCCCCACCTCCACCTGGACCCAGTGTAGACAGGAG	XP_011544471.1:n.647-207_647-206insAAGACTCTGCACCACCTCCACCTAGA...
XM_011546170.1:c.647-207_647-206insAAGACTCTGCACCACCTCCACCTAGACCCAGTGTAGACAGGAGGAGACCCTGCCCCACCTCCACCTGGACCCAGTGTAGACAGGAG	XP_011544472.1:n.647-207_647-206insAAGACTCTGCACCACCTCCACCTAGA...
XM_011546171.1:c.647-207_647-206insAAGACTCTGCACCACCTCCACCTAGACCCAGTGTAGACAGGAGGAGACCCTGCCCCACCTCCACCTGGACCCAGTGTAGACAGGAG	XP_011544473.1:n.647-207_647-206insAAGACTCTGCACCACCTCCACCTAGA...
XM_011546172.1:c.647-207_647-206insAAGACTCTGCACCACCTCCACCTAGACCCAGTGTAGACAGGAGGAGACCCTGCCCCACCTCCACCTGGACCCAGTGTAGACAGGAG	XP_011544474.1:n.647-207_647-206insAAGACTCTGCACCACCTCCACCTAGA...
XM_011546173.1:c.647-207_647-206insAAGACTCTGCACCACCTCCACCTAGACCCAGTGTAGACAGGAGGAGACCCTGCCCCACCTCCACCTGGACCCAGTGTAGACAGGAG	XP_011544475.1:n.647-207_647-206insAAGACTCTGCACCACCTCCACCTAGA...
XM_011546174.1:c.647-207_647-206insAAGACTCTGCACCACCTCCACCTAGACCCAGTGTAGACAGGAGGAGACCCTGCCCCACCTCCACCTGGACCCAGTGTAGACAGGAG	XP_011544476.1:n.647-207_647-206insAAGACTCTGCACCACCTCCACCTAGA...
XM_011546175.1:c.647-207_647-206insAAGACTCTGCACCACCTCCACCTAGACCCAGTGTAGACAGGAGGAGACCCTGCCCCACCTCCACCTGGACCCAGTGTAGACAGGAG	XP_011544477.1:n.647-207_647-206insAAGACTCTGCACCACCTCCACCTAGA...
XM_011546176.1:c.515-207_515-206insAAGACTCTGCACCACCTCCACCTAGACCCAGTGTAGACAGGAGGAGACCCTGCCCCACCTCCACCTGGACCCAGTGTAGACAGGAG	XP_011544478.1:n.515-207_515-206insAAGACTCTGCACCACCTCCACCTAGA...
XM_011546165.3:c.647-207_647-206insAAGACTCTGCACCACCTCCACCTAGACCCAGTGTAGACAGGAGGAGACCCTGCCCCACCTCCACCTGGACCCAGTGTAGACAGGAG	XP_011544467.1:n.647-207_647-206insAAGACTCTGCACCACCTCCACCTAGA...
XM_011546167.2:c.647-207_647-206insAAGACTCTGCACCACCTCCACCTAGACCCAGTGTAGACAGGAGGAGACCCTGCCCCACCTCCACCTGGACCCAGTGTAGACAGGAG	XP_011544469.1:n.647-207_647-206insAAGACTCTGCACCACCTCCACCTAGA...
XM_011546168.2:c.647-207_647-206insAAGACTCTGCACCACCTCCACCTAGACCCAGTGTAGACAGGAGGAGACCCTGCCCCACCTCCACCTGGACCCAGTGTAGACAGGAG	XP_011544470.1:n.647-207_647-206insAAGACTCTGCACCACCTCCACCTAGA...
XM_011546170.3:c.647-207_647-206insAAGACTCTGCACCACCTCCACCTAGACCCAGTGTAGACAGGAGGAGACCCTGCCCCACCTCCACCTGGACCCAGTGTAGACAGGAG	XP_011544472.1:n.647-207_647-206insAAGACTCTGCACCACCTCCACCTAGA...
XM_011546174.3:c.647-207_647-206insAAGACTCTGCACCACCTCCACCTAGACCCAGTGTAGACAGGAGGAGACCCTGCCCCACCTCCACCTGGACCCAGTGTAGACAGGAG	XP_011544476.1:n.647-207_647-206insAAGACTCTGCACCACCTCCACCTAGA...
XM_011546175.2:c.647-207_647-206insAAGACTCTGCACCACCTCCACCTAGACCCAGTGTAGACAGGAGGAGACCCTGCCCCACCTCCACCTGGACCCAGTGTAGACAGGAG	XP_011544477.1:n.647-207_647-206insAAGACTCTGCACCACCTCCACCTAGA...
XM_017029287.1:c.647-207_647-206insAAGACTCTGCACCACCTCCACCTAGACCCAGTGTAGACAGGAGGAGACCCTGCCCCACCTCCACCTGGACCCAGTGTAGACAGGAG	XP_016884776.1:n.647-207_647-206insAAGACTCTGCACCACCTCCACCTAGA...
XM_017029288.1:c.647-207_647-206insAAGACTCTGCACCACCTCCACCTAGACCCAGTGTAGACAGGAGGAGACCCTGCCCCACCTCCACCTGGACCCAGTGTAGACAGGAG	XP_016884777.1:n.647-207_647-206insAAGACTCTGCACCACCTCCACCTAGA...