Canonical Allele Identifier: CA915943457
Gene: SLC22A5 HGNC NCBI

Linked Data

ClinVar Variation Id: 645158
dbSNP Id: rs1580892402

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.132390795del , CM000667.2:g.132390795del GRCh38
NC_000005.9:g.131726487del , CM000667.1:g.131726487del GRCh37
NC_000005.8:g.131754386del NCBI36
NG_008982.1:g.26087del
NG_008982.2:g.26092del

Transcript Alleles

HGVS Amino-acid Change
ENST00000415928.6:c.999del ENSP00000388838.2:p.Tyr334MetfsTer?
ENST00000435065.7:c.1230del ENSP00000402760.2:p.Tyr411MetfsTer?
ENST00000448810.6:c.*10del ENSP00000401860.2:n.*10del
ENST00000685543.1:n.1299del
ENST00000686757.1:c.*322del ENSP00000510721.1:n.*322del
ENST00000687740.1:n.3843del
ENST00000688151.1:n.2468del
ENST00000689271.1:c.1005del ENSP00000510797.1:p.Tyr336MetfsTer?
ENST00000690900.1:c.*322del ENSP00000510703.1:n.*322del
ENST00000692212.1:n.2770del
ENST00000692355.1:c.411del
ENST00000692413.1:c.1140del ENSP00000509374.1:p.Tyr381MetfsTer?
ENST00000692825.1:c.1226del ENSP00000509447.1:n.1226del
ENST00000693308.1:c.1206del ENSP00000509770.1:p.Tyr403MetfsTer?
ENST00000693763.1:n.2318del
ENST00000245407.8:c.1158del MANE Select ENSP00000245407.3:p.Tyr387MetfsTer?
ENST00000245407.7:c.1158del ENSP00000245407.3:p.Tyr387MetfsTer?
ENST00000435065.6:c.1230del ENSP00000402760.2:p.Tyr411MetfsTer?
ENST00000447841.5:c.112-1638del
ENST00000448810.5:c.420del
ENST00000461013.5:n.8580del
ENST00000475308.1:n.1836del
ENST00000479605.5:n.261del
NM_001308122.1:c.1230del NP_001295051.1:p.Tyr411MetfsTer?
NM_003060.3:c.1158del NP_003051.1:p.Tyr387MetfsTer?
XM_011543590.1:c.540del XP_011541892.1:p.Tyr181MetfsTer?
XR_427718.1:n.1518del
XR_948290.1:n.1394-1638del
XR_948291.1:n.1512del
XM_011543590.2:c.540del XP_011541892.1:p.Tyr181MetfsTer?
XM_017009778.2:c.630del XP_016865267.1:p.Tyr211MetfsTer?
XR_001742215.1:n.1413del
XR_001742216.1:n.1432del
XR_427718.2:n.1518del
XR_948290.2:n.1394-1638del
XR_948291.2:n.1512del
NM_003060.4:c.1158del MANE Select NP_003051.1:p.Tyr387MetfsTer?
NM_001308122.2:c.1230del NP_001295051.1:p.Tyr411MetfsTer?