Canonical Allele Identifier: CA640154183

Gene: CSF2RA

Linked Data

• gnomAD v2: X-1412904-TCCACCTGGACCCAGTGTAGACAGGAGAAGACTGCACCACCTCCACCTGGACCGAGTGTAGACAGGAGGAGACCCTGCCCCACCTCTACCTGGACCCAGTGTAGACAGGAGGAGACCCTGCCCCATCTCCACCTGGACCCAGTGTAGTCAAAGAGGTGTCCCTACTCCAC-T
• gnomAD v3: X-1294011-TCCACCTGGACCCAGTGTAGACAGGAGAAGACTGCACCACCTCCACCTGGACCGAGTGTAGACAGGAGGAGACCCTGCCCCACCTCTACCTGGACCCAGTGTAGACAGGAGGAGACCCTGCCCCATCTCCACCTGGACCCAGTGTAGTCAAAGAGGTGTCCCTACTCCAC-T
• gnomAD v4: X-1294011-TCCACCTGGACCCAGTGTAGACAGGAGAAGACTGCACCACCTCCACCTGGACCGAGTGTAGACAGGAGGAGACCCTGCCCCACCTCTACCTGGACCCAGTGTAGACAGGAGGAGACCCTGCCCCATCTCCACCTGGACCCAGTGTAGTCAAAGAGGTGTCCCTACTCCAC-T
• MyVariant Identifiers: chrX:g.1412905_1413073del (hg19) ; chrX:g.1294012_1294180del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.1294013_1294181del , CM000685.2:g.1294013_1294181del	GRCh38
NC_000023.10:g.1412906_1413074del , CM000685.1:g.1412906_1413074del	GRCh37
NC_000023.9:g.1372906_1373074del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000498153.7:c.647-315_647-147del	ENSP00000512483.1:n.647-315_647-147del
ENST00000696230.1:c.*730-315_*730-147del	ENSP00000512496.1:n.*730-315_*730-147del
ENST00000381529.9:c.647-315_647-147del MANE Select	ENSP00000370940.3:n.647-315_647-147del
ENST00000432318.8:c.647-315_647-147del	ENSP00000416437.2:n.647-315_647-147del
ENST00000355432.8:c.647-315_647-147del	ENSP00000347606.3:n.647-315_647-147del
ENST00000355805.7:c.646+3504_646+3672del	ENSP00000348058.2:n.646+3504_646+3672del
ENST00000381500.6:c.647-315_647-147del	ENSP00000370911.1:n.647-315_647-147del
ENST00000381509.8:c.647-315_647-147del	ENSP00000370920.3:n.647-315_647-147del
ENST00000381524.8:c.647-315_647-147del	ENSP00000370935.3:n.647-315_647-147del
ENST00000381529.8:c.647-315_647-147del	ENSP00000370940.3:n.647-315_647-147del
ENST00000412290.6:c.647-315_647-147del	ENSP00000410667.1:n.647-315_647-147del
ENST00000417535.7:c.647-315_647-147del	ENSP00000394227.2:n.647-315_647-147del
ENST00000432318.7:c.647-315_647-147del	ENSP00000416437.2:n.647-315_647-147del
ENST00000475259.6:n.58-315_58-147del
ENST00000486791.6:c.647-315_647-147del	ENSP00000436825.1:n.647-315_647-147del
ENST00000493312.6:n.684-315_684-147del
ENST00000494969.7:c.244+6815_244+6983del	ENSP00000476684.1:n.244+6815_244+6983del
ENST00000501036.7:c.248-315_248-147del	ENSP00000440491.1:n.248-315_248-147del
XM_011546165.1:c.647-315_647-147del	XP_011544467.1:n.647-315_647-147del
XM_011546166.1:c.647-315_647-147del	XP_011544468.1:n.647-315_647-147del
XM_011546167.1:c.647-315_647-147del	XP_011544469.1:n.647-315_647-147del
XM_011546168.1:c.647-315_647-147del	XP_011544470.1:n.647-315_647-147del
XM_011546169.1:c.647-315_647-147del	XP_011544471.1:n.647-315_647-147del
XM_011546170.1:c.647-315_647-147del	XP_011544472.1:n.647-315_647-147del
XM_011546171.1:c.647-315_647-147del	XP_011544473.1:n.647-315_647-147del
XM_011546172.1:c.647-315_647-147del	XP_011544474.1:n.647-315_647-147del
XM_011546173.1:c.647-315_647-147del	XP_011544475.1:n.647-315_647-147del
XM_011546174.1:c.647-315_647-147del	XP_011544476.1:n.647-315_647-147del
XM_011546175.1:c.647-315_647-147del	XP_011544477.1:n.647-315_647-147del
XM_011546176.1:c.515-315_515-147del	XP_011544478.1:n.515-315_515-147del
XM_011546165.3:c.647-315_647-147del	XP_011544467.1:n.647-315_647-147del
XM_011546167.2:c.647-315_647-147del	XP_011544469.1:n.647-315_647-147del
XM_011546168.2:c.647-315_647-147del	XP_011544470.1:n.647-315_647-147del
XM_011546170.3:c.647-315_647-147del	XP_011544472.1:n.647-315_647-147del
XM_011546174.3:c.647-315_647-147del	XP_011544476.1:n.647-315_647-147del
XM_011546175.2:c.647-315_647-147del	XP_011544477.1:n.647-315_647-147del
XM_017029287.1:c.647-315_647-147del	XP_016884776.1:n.647-315_647-147del
XM_017029288.1:c.647-315_647-147del	XP_016884777.1:n.647-315_647-147del