Canonical Allele Identifier: CA2675202263
Gene: SLC22A5 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.132388927del , CM000667.2:g.132388927del GRCh38
NC_000005.9:g.131724619del , CM000667.1:g.131724619del GRCh37
NC_000005.8:g.131752518del NCBI36
NG_008982.1:g.24219del
NG_008982.2:g.24224del

Transcript Alleles

HGVS Amino-acid Change
ENST00000415928.6:c.799del ENSP00000388838.2:p.Asp267ThrfsTer2
ENST00000435065.7:c.1030del ENSP00000402760.2:p.Asp344ThrfsTer2
ENST00000448810.6:c.958del ENSP00000401860.2:p.Asp320ThrfsTer2
ENST00000685543.1:n.1099del
ENST00000686757.1:c.*122del ENSP00000510721.1:n.*122del
ENST00000687740.1:n.3643del
ENST00000688151.1:n.2268del
ENST00000689271.1:c.805del ENSP00000510797.1:p.Asp269ThrfsTer2
ENST00000690900.1:c.*122del ENSP00000510703.1:n.*122del
ENST00000692212.1:n.902del
ENST00000692355.1:c.211del
ENST00000692413.1:c.940del ENSP00000509374.1:p.Asp314ThrfsTer2
ENST00000692825.1:c.1026del ENSP00000509447.1:n.1026del
ENST00000693308.1:c.1006del ENSP00000509770.1:p.Asp336ThrfsTer2
ENST00000693763.1:n.2118del
ENST00000245407.8:c.958del MANE Select ENSP00000245407.3:p.Asp320ThrfsTer2
ENST00000245407.7:c.958del ENSP00000245407.3:p.Asp320ThrfsTer2
ENST00000435065.6:c.1030del ENSP00000402760.2:p.Asp344ThrfsTer2
ENST00000437841.6:c.*273del ENSP00000400553.1:n.*273del
ENST00000447841.5:c.17del
ENST00000448810.5:c.306del
ENST00000461013.5:n.8380del
ENST00000479605.5:n.61del
NM_001308122.1:c.1030del NP_001295051.1:p.Asp344ThrfsTer2
NM_003060.3:c.958del NP_003051.1:p.Asp320ThrfsTer2
XM_011543590.1:c.340del XP_011541892.1:p.Asp114ThrfsTer2
XR_427718.1:n.1318del
XR_948290.1:n.1299del
XR_948291.1:n.1312del
XM_011543590.2:c.340del XP_011541892.1:p.Asp114ThrfsTer2
XM_017009778.2:c.430del XP_016865267.1:p.Asp144ThrfsTer2
XR_001742215.1:n.1299del
XR_001742216.1:n.1318del
XR_427718.2:n.1318del
XR_948290.2:n.1299del
XR_948291.2:n.1312del
NM_003060.4:c.958del MANE Select NP_003051.1:p.Asp320ThrfsTer2
NM_001308122.2:c.1030del NP_001295051.1:p.Asp344ThrfsTer2