Canonical Allele Identifier: CA2580072652
Gene: SLC22A5 HGNC NCBI

Linked Data

ClinVar Variation Id: 1726292
ClinVar RCV Id: RCV002307263

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.132390832del , CM000667.2:g.132390832del GRCh38
NC_000005.9:g.131726524del , CM000667.1:g.131726524del GRCh37
NC_000005.8:g.131754423del NCBI36
NG_008982.1:g.26124del
NG_008982.2:g.26129del

Transcript Alleles

HGVS Amino-acid Change
ENST00000415928.6:c.1036del ENSP00000388838.2:p.Arg346GlyfsTer?
ENST00000435065.7:c.1267del ENSP00000402760.2:p.Arg423GlyfsTer?
ENST00000448810.6:c.*47del ENSP00000401860.2:n.*47del
ENST00000685543.1:n.1336del
ENST00000686757.1:c.*359del ENSP00000510721.1:n.*359del
ENST00000687740.1:n.3880del
ENST00000688151.1:n.2505del
ENST00000689271.1:c.1042del ENSP00000510797.1:p.Arg348GlyfsTer?
ENST00000690900.1:c.*359del ENSP00000510703.1:n.*359del
ENST00000692212.1:n.2807del
ENST00000692355.1:c.448del
ENST00000692413.1:c.1177del ENSP00000509374.1:p.Arg393GlyfsTer?
ENST00000692825.1:c.1263del ENSP00000509447.1:n.1263del
ENST00000693308.1:c.1243del ENSP00000509770.1:p.Arg415GlyfsTer?
ENST00000693763.1:n.2355del
ENST00000245407.8:c.1195del MANE Select ENSP00000245407.3:p.Arg399GlyfsTer?
ENST00000245407.7:c.1195del ENSP00000245407.3:p.Arg399GlyfsTer?
ENST00000435065.6:c.1267del ENSP00000402760.2:p.Arg423GlyfsTer?
ENST00000447841.5:c.112-1601del
ENST00000448810.5:c.457del
ENST00000461013.5:n.8617del
ENST00000475308.1:n.1873del
ENST00000479605.5:n.298del
NM_001308122.1:c.1267del NP_001295051.1:p.Arg423GlyfsTer?
NM_003060.3:c.1195del NP_003051.1:p.Arg399GlyfsTer?
XM_011543590.1:c.577del XP_011541892.1:p.Arg193GlyfsTer?
XR_427718.1:n.1555del
XR_948290.1:n.1394-1601del
XR_948291.1:n.1549del
XM_011543590.2:c.577del XP_011541892.1:p.Arg193GlyfsTer?
XM_017009778.2:c.667del XP_016865267.1:p.Arg223GlyfsTer?
XR_001742215.1:n.1450del
XR_001742216.1:n.1469del
XR_427718.2:n.1555del
XR_948290.2:n.1394-1601del
XR_948291.2:n.1549del
NM_003060.4:c.1195del MANE Select NP_003051.1:p.Arg399GlyfsTer?
NM_001308122.2:c.1267del NP_001295051.1:p.Arg423GlyfsTer?