Canonical Allele Identifier: CA2739275027
Gene: SLC22A5 HGNC NCBI

Linked Data

ClinVar Variation Id: 2843727
ClinVar RCV Id: RCV003616678

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.132385346del , CM000667.2:g.132385346del GRCh38
NC_000005.9:g.131721038del , CM000667.1:g.131721038del GRCh37
NC_000005.8:g.131748937del NCBI36
NG_008982.1:g.20638del
NG_008982.2:g.20643del

Transcript Alleles

HGVS Amino-acid Change
ENST00000415928.6:c.665+1032del ENSP00000388838.2:n.665+1032del
ENST00000435065.7:c.743del ENSP00000402760.2:p.Lys248SerfsTer5
ENST00000448810.6:c.671del ENSP00000401860.2:p.Lys224SerfsTer5
ENST00000686757.1:c.690del ENSP00000510721.1:p.Val231SerfsTer?
ENST00000687740.1:n.1831del
ENST00000688151.1:n.1863del
ENST00000689271.1:c.671+1026del ENSP00000510797.1:n.671+1026del
ENST00000690900.1:c.672-30del ENSP00000510703.1:n.672-30del
ENST00000692212.1:n.497del
ENST00000692355.1:c.204+1045del
ENST00000692413.1:c.690del ENSP00000509374.1:p.Val231SerfsTer?
ENST00000692825.1:c.739del ENSP00000509447.1:n.739del
ENST00000693308.1:c.684del ENSP00000509770.1:p.Val229SerfsTer?
ENST00000693763.1:n.1831del
ENST00000245407.8:c.671del MANE Select ENSP00000245407.3:p.Lys224SerfsTer5
ENST00000245407.7:c.671del ENSP00000245407.3:p.Lys224SerfsTer5
ENST00000415928.5:c.440del ENSP00000388838.1:p.Lys147SerfsTer5
ENST00000435065.6:c.743del ENSP00000402760.2:p.Lys248SerfsTer5
ENST00000437841.6:c.412del ENSP00000400553.1:p.Ser138ValfsTer?
ENST00000448810.5:c.19del
ENST00000461013.5:n.8093del
NM_001308122.1:c.743del NP_001295051.1:p.Lys248SerfsTer5
NM_003060.3:c.671del NP_003051.1:p.Lys224SerfsTer5
XM_011543590.1:c.53del XP_011541892.1:p.Lys18SerfsTer5
XR_427718.1:n.1031del
XR_948290.1:n.1012del
XR_948291.1:n.1025del
XM_011543590.2:c.53del XP_011541892.1:p.Lys18SerfsTer5
XM_017009778.2:c.143del XP_016865267.1:p.Lys48SerfsTer5
XR_001742215.1:n.1012del
XR_001742216.1:n.1031del
XR_427718.2:n.1031del
XR_948290.2:n.1012del
XR_948291.2:n.1025del
NM_003060.4:c.671del MANE Select NP_003051.1:p.Lys224SerfsTer5
NM_001308122.2:c.743del NP_001295051.1:p.Lys248SerfsTer5