Canonical Allele Identifier: CA2556460687

Gene: SLC2A9

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.9920457del , CM000666.2:g.9920457del	GRCh38
NC_000004.11:g.9922081del , CM000666.1:g.9922081del	GRCh37
NC_000004.10:g.9531179del	NCBI36
NG_011540.1:g.124792del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264784.8:c.930del MANE Select	ENSP00000264784.3:p.Tyr312ThrfsTer9
ENST00000264784.7:c.930del	ENSP00000264784.3:p.Tyr312ThrfsTer9
ENST00000309065.7:c.843del	ENSP00000311383.3:p.Tyr283ThrfsTer9
ENST00000505104.5:n.964del
ENST00000506583.5:c.843del	ENSP00000422209.1:p.Tyr283ThrfsTer9
NM_001001290.1:c.843del	NP_001001290.1:p.Tyr283ThrfsTer9
NM_020041.2:c.930del	NP_064425.2:p.Tyr312ThrfsTer9
XM_006713968.2:c.930del	XP_006714031.1:p.Tyr312ThrfsTer9
XM_006713969.2:c.843del	XP_006714032.1:p.Tyr283ThrfsTer9
XM_011513856.1:c.930del	XP_011512158.1:p.Tyr312ThrfsTer9
XM_011513857.1:c.843del	XP_011512159.1:p.Tyr283ThrfsTer9
XM_011513858.1:c.843del	XP_011512160.1:p.Tyr283ThrfsTer9
XM_011513859.1:c.930del	XP_011512161.1:p.Tyr312ThrfsTer9
XM_011513860.1:c.930del	XP_011512162.1:p.Tyr312ThrfsTer9
XM_011513861.1:c.930del	XP_011512163.1:p.Tyr312ThrfsTer9
XM_011513862.1:c.534del	XP_011512164.1:p.Tyr180ThrfsTer9
XM_011513863.1:c.534del	XP_011512165.1:p.Tyr180ThrfsTer9
XM_011513864.1:c.522del	XP_011512166.1:p.Tyr176ThrfsTer9
XM_011513865.1:c.930del	XP_011512167.1:p.Tyr312ThrfsTer9
XM_011513866.1:c.930del	XP_011512168.1:p.Tyr312ThrfsTer9
XM_011513867.1:c.372del	XP_011512169.1:p.Tyr126ThrfsTer9
XM_011513868.1:c.930del	XP_011512170.1:p.Tyr312ThrfsTer9
XR_925341.1:n.1026del
XM_006713968.4:c.930del	XP_006714031.1:p.Tyr312ThrfsTer9
XM_011513856.3:c.930del	XP_011512158.1:p.Tyr312ThrfsTer9
XM_011513859.3:c.930del	XP_011512161.1:p.Tyr312ThrfsTer9
XM_011513860.3:c.930del	XP_011512162.1:p.Tyr312ThrfsTer9
XM_011513861.3:c.930del	XP_011512163.1:p.Tyr312ThrfsTer9
XM_011513862.3:c.534del	XP_011512164.1:p.Tyr180ThrfsTer9
XM_011513864.2:c.522del	XP_011512166.1:p.Tyr176ThrfsTer9
XM_011513865.2:c.930del	XP_011512167.1:p.Tyr312ThrfsTer9
XM_011513866.2:c.930del	XP_011512168.1:p.Tyr312ThrfsTer9
XM_011513867.3:c.372del	XP_011512169.1:p.Tyr126ThrfsTer9
XM_011513868.2:c.930del	XP_011512170.1:p.Tyr312ThrfsTer9
XM_017008457.2:c.930del	XP_016863946.1:p.Tyr312ThrfsTer9
XM_017008458.2:c.930del	XP_016863947.1:p.Tyr312ThrfsTer9
XM_017008459.1:c.468del	XP_016863948.1:p.Tyr158ThrfsTer9
XM_017008460.2:c.534del	XP_016863949.1:p.Tyr180ThrfsTer9
XM_024454150.1:c.930del	XP_024309918.1:p.Tyr312ThrfsTer9
XM_024454151.1:c.543del	XP_024309919.1:p.Tyr183ThrfsTer9
XM_024454152.1:c.930del	XP_024309920.1:p.Tyr312ThrfsTer9
XM_024454153.1:c.930del	XP_024309921.1:p.Tyr312ThrfsTer9
XR_001741290.1:n.1103del
XR_001741291.1:n.1103del
XR_925341.3:n.1107del
NM_020041.3:c.930del MANE Select	NP_064425.2:p.Tyr312ThrfsTer9
NM_001001290.2:c.843del	NP_001001290.1:p.Tyr283ThrfsTer9