Canonical Allele Identifier: CA549558112
Gene: SLC2A9 HGNC NCBI

Linked Data

dbSNP Id: rs1349096874
gnomAD v2: 4-9946673-A-AT
gnomAD v3: 4-9945049-A-AT
gnomAD v4: 4-9945049-A-AT

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.9945049_9945050insT , CM000666.2:g.9945049_9945050insT GRCh38
NC_000004.11:g.9946673_9946674insT , CM000666.1:g.9946673_9946674insT GRCh37
NC_000004.10:g.9555771_9555772insT NCBI36
NG_011540.1:g.100199_100200insA

Transcript Alleles

HGVS Amino-acid Change
ENST00000264784.8:c.682-3005_682-3004insA MANE Select ENSP00000264784.3:n.682-3005_682-3004insA
ENST00000264784.7:c.682-3005_682-3004insA ENSP00000264784.3:n.682-3005_682-3004insA
ENST00000309065.7:c.595-3005_595-3004insA ENSP00000311383.3:n.595-3005_595-3004insA
ENST00000505104.5:n.716-3005_716-3004insA
ENST00000506583.5:c.595-3005_595-3004insA ENSP00000422209.1:n.595-3005_595-3004insA
NM_001001290.1:c.595-3005_595-3004insA NP_001001290.1:n.595-3005_595-3004insA
NM_020041.2:c.682-3005_682-3004insA NP_064425.2:n.682-3005_682-3004insA
XM_006713968.2:c.682-3005_682-3004insA XP_006714031.1:n.682-3005_682-3004insA
XM_006713969.2:c.595-3005_595-3004insA XP_006714032.1:n.595-3005_595-3004insA
XM_011513856.1:c.682-3005_682-3004insA XP_011512158.1:n.682-3005_682-3004insA
XM_011513857.1:c.595-3005_595-3004insA XP_011512159.1:n.595-3005_595-3004insA
XM_011513858.1:c.595-3005_595-3004insA XP_011512160.1:n.595-3005_595-3004insA
XM_011513859.1:c.682-3005_682-3004insA XP_011512161.1:n.682-3005_682-3004insA
XM_011513860.1:c.682-3005_682-3004insA XP_011512162.1:n.682-3005_682-3004insA
XM_011513861.1:c.682-3005_682-3004insA XP_011512163.1:n.682-3005_682-3004insA
XM_011513862.1:c.286-3005_286-3004insA XP_011512164.1:n.286-3005_286-3004insA
XM_011513863.1:c.286-3005_286-3004insA XP_011512165.1:n.286-3005_286-3004insA
XM_011513864.1:c.274-3005_274-3004insA XP_011512166.1:n.274-3005_274-3004insA
XM_011513865.1:c.682-3005_682-3004insA XP_011512167.1:n.682-3005_682-3004insA
XM_011513866.1:c.682-3005_682-3004insA XP_011512168.1:n.682-3005_682-3004insA
XM_011513867.1:c.124-3005_124-3004insA XP_011512169.1:n.124-3005_124-3004insA
XM_011513868.1:c.682-3005_682-3004insA XP_011512170.1:n.682-3005_682-3004insA
XR_925341.1:n.778-3005_778-3004insA
XM_006713968.4:c.682-3005_682-3004insA XP_006714031.1:n.682-3005_682-3004insA
XM_011513856.3:c.682-3005_682-3004insA XP_011512158.1:n.682-3005_682-3004insA
XM_011513859.3:c.682-3005_682-3004insA XP_011512161.1:n.682-3005_682-3004insA
XM_011513860.3:c.682-3005_682-3004insA XP_011512162.1:n.682-3005_682-3004insA
XM_011513861.3:c.682-3005_682-3004insA XP_011512163.1:n.682-3005_682-3004insA
XM_011513862.3:c.286-3005_286-3004insA XP_011512164.1:n.286-3005_286-3004insA
XM_011513864.2:c.274-3005_274-3004insA XP_011512166.1:n.274-3005_274-3004insA
XM_011513865.2:c.682-3005_682-3004insA XP_011512167.1:n.682-3005_682-3004insA
XM_011513866.2:c.682-3005_682-3004insA XP_011512168.1:n.682-3005_682-3004insA
XM_011513867.3:c.124-3005_124-3004insA XP_011512169.1:n.124-3005_124-3004insA
XM_011513868.2:c.682-3005_682-3004insA XP_011512170.1:n.682-3005_682-3004insA
XM_017008457.2:c.682-3005_682-3004insA XP_016863946.1:n.682-3005_682-3004insA
XM_017008458.2:c.682-3005_682-3004insA XP_016863947.1:n.682-3005_682-3004insA
XM_017008459.1:c.220-3005_220-3004insA XP_016863948.1:n.220-3005_220-3004insA
XM_017008460.2:c.286-3005_286-3004insA XP_016863949.1:n.286-3005_286-3004insA
XM_024454150.1:c.682-3005_682-3004insA XP_024309918.1:n.682-3005_682-3004insA
XM_024454151.1:c.295-3005_295-3004insA XP_024309919.1:n.295-3005_295-3004insA
XM_024454152.1:c.682-3005_682-3004insA XP_024309920.1:n.682-3005_682-3004insA
XM_024454153.1:c.682-3005_682-3004insA XP_024309921.1:n.682-3005_682-3004insA
XR_001741290.1:n.855-3005_855-3004insA
XR_001741291.1:n.855-3005_855-3004insA
XR_925341.3:n.859-3005_859-3004insA
NM_020041.3:c.682-3005_682-3004insA MANE Select NP_064425.2:n.682-3005_682-3004insA
NM_001001290.2:c.595-3005_595-3004insA NP_001001290.1:n.595-3005_595-3004insA