Canonical Allele Identifier: CA2580072653
Gene: SLC22A5 HGNC NCBI

Linked Data

ClinVar Variation Id: 1724410
ClinVar RCV Id: RCV002309678

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.132390895del , CM000667.2:g.132390895del GRCh38
NC_000005.9:g.131726587del , CM000667.1:g.131726587del GRCh37
NC_000005.8:g.131754486del NCBI36
NG_008982.1:g.26187del
NG_008982.2:g.26192del

Transcript Alleles

HGVS Amino-acid Change
ENST00000415928.6:c.1099del ENSP00000388838.2:p.Val367TyrfsTer13
ENST00000435065.7:c.1330del ENSP00000402760.2:p.Val444TyrfsTer13
ENST00000448810.6:c.*110del ENSP00000401860.2:n.*110del
ENST00000685543.1:n.1399del
ENST00000686757.1:c.*422del ENSP00000510721.1:n.*422del
ENST00000687740.1:n.3943del
ENST00000688151.1:n.2568del
ENST00000689271.1:c.1105del ENSP00000510797.1:p.Val369TyrfsTer13
ENST00000690900.1:c.*422del ENSP00000510703.1:n.*422del
ENST00000692212.1:n.2870del
ENST00000692355.1:c.511del
ENST00000692413.1:c.1240del ENSP00000509374.1:p.Val414TyrfsTer13
ENST00000692825.1:c.1326del ENSP00000509447.1:n.1326del
ENST00000693308.1:c.1306del ENSP00000509770.1:p.Val436TyrfsTer13
ENST00000693763.1:n.2418del
ENST00000245407.8:c.1258del MANE Select ENSP00000245407.3:p.Val420TyrfsTer13
ENST00000245407.7:c.1258del ENSP00000245407.3:p.Val420TyrfsTer13
ENST00000435065.6:c.1330del ENSP00000402760.2:p.Val444TyrfsTer13
ENST00000447841.5:c.112-1538del
ENST00000448810.5:c.520del
ENST00000461013.5:n.8680del
ENST00000475308.1:n.1936del
ENST00000479605.5:n.361del
NM_001308122.1:c.1330del NP_001295051.1:p.Val444TyrfsTer13
NM_003060.3:c.1258del NP_003051.1:p.Val420TyrfsTer13
XM_011543590.1:c.640del XP_011541892.1:p.Val214TyrfsTer13
XR_427718.1:n.1618del
XR_948290.1:n.1394-1538del
XR_948291.1:n.1612del
XM_011543590.2:c.640del XP_011541892.1:p.Val214TyrfsTer13
XM_017009778.2:c.730del XP_016865267.1:p.Val244TyrfsTer13
XR_001742215.1:n.1513del
XR_001742216.1:n.1532del
XR_427718.2:n.1618del
XR_948290.2:n.1394-1538del
XR_948291.2:n.1612del
NM_003060.4:c.1258del MANE Select NP_003051.1:p.Val420TyrfsTer13
NM_001308122.2:c.1330del NP_001295051.1:p.Val444TyrfsTer13