Canonical Allele Identifier: CA2578402148
Gene: SLC22A5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.132390726del , CM000667.2:g.132390726del GRCh38
NC_000005.9:g.131726418del , CM000667.1:g.131726418del GRCh37
NC_000005.8:g.131754317del NCBI36
NG_008982.1:g.26018del
NG_008982.2:g.26023del

Transcript Alleles

HGVS Amino-acid Change
ENST00000415928.6:c.930del ENSP00000388838.2:p.Asp311IlefsTer11
ENST00000435065.7:c.1161del ENSP00000402760.2:p.Asp388IlefsTer11
ENST00000448810.6:c.1053-50del ENSP00000401860.2:n.1053-50del
ENST00000685543.1:n.1230del
ENST00000686757.1:c.*253del ENSP00000510721.1:n.*253del
ENST00000687740.1:n.3774del
ENST00000688151.1:n.2399del
ENST00000689271.1:c.936del ENSP00000510797.1:p.Asp313IlefsTer11
ENST00000690900.1:c.*253del ENSP00000510703.1:n.*253del
ENST00000692212.1:n.2701del
ENST00000692355.1:c.342del
ENST00000692413.1:c.1071del ENSP00000509374.1:p.Asp358IlefsTer11
ENST00000692825.1:c.1157del ENSP00000509447.1:n.1157del
ENST00000693308.1:c.1137del ENSP00000509770.1:p.Asp380IlefsTer11
ENST00000693763.1:n.2249del
ENST00000245407.8:c.1089del MANE Select ENSP00000245407.3:p.Asp364IlefsTer11
ENST00000245407.7:c.1089del ENSP00000245407.3:p.Asp364IlefsTer11
ENST00000435065.6:c.1161del ENSP00000402760.2:p.Asp388IlefsTer11
ENST00000447841.5:c.111+1705del
ENST00000448810.5:c.401-50del
ENST00000461013.5:n.8511del
ENST00000475308.1:n.1767del
ENST00000479605.5:n.192del
NM_001308122.1:c.1161del NP_001295051.1:p.Asp388IlefsTer11
NM_003060.3:c.1089del NP_003051.1:p.Asp364IlefsTer11
XM_011543590.1:c.471del XP_011541892.1:p.Asp158IlefsTer11
XR_427718.1:n.1449del
XR_948290.1:n.1393+1705del
XR_948291.1:n.1443del
XM_011543590.2:c.471del XP_011541892.1:p.Asp158IlefsTer11
XM_017009778.2:c.561del XP_016865267.1:p.Asp188IlefsTer11
XR_001742215.1:n.1394-50del
XR_001742216.1:n.1413-50del
XR_427718.2:n.1449del
XR_948290.2:n.1393+1705del
XR_948291.2:n.1443del
NM_003060.4:c.1089del MANE Select NP_003051.1:p.Asp364IlefsTer11
NM_001308122.2:c.1161del NP_001295051.1:p.Asp388IlefsTer11