Canonical Allele Identifier: CA2675199595
Gene: SLC22A5 HGNC NCBI

Linked Data

dbSNP Id: rs2126792686

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.132393728_132393739del , CM000667.2:g.132393728_132393739del GRCh38
NC_000005.9:g.131729420_131729431del , CM000667.1:g.131729420_131729431del GRCh37
NC_000005.8:g.131757319_131757330del NCBI36
NG_008982.1:g.29020_29031del
NG_008982.2:g.29025_29036del

Transcript Alleles

HGVS Amino-acid Change
ENST00000415928.6:c.1292-457_1292-446del ENSP00000388838.2:n.1292-457_1292-446del
ENST00000435065.7:c.1575_1586del ENSP00000402760.2:p.Thr526_Leu529del
ENST00000448810.6:c.*355_*366del ENSP00000401860.2:n.*355_*366del
ENST00000685543.1:n.1644_1655del
ENST00000686757.1:c.*667_*678del ENSP00000510721.1:n.*667_*678del
ENST00000686868.1:n.495_506del
ENST00000687740.1:n.4188_4199del
ENST00000688151.1:n.2813_2824del
ENST00000689271.1:c.1350_1361del ENSP00000510797.1:p.Thr451_Leu454del
ENST00000690900.1:c.*667_*678del ENSP00000510703.1:n.*667_*678del
ENST00000692212.1:n.4643_4654del
ENST00000692355.1:c.756_767del
ENST00000692413.1:c.1485_1496del ENSP00000509374.1:p.Thr496_Leu499del
ENST00000692825.1:c.1571_1582del ENSP00000509447.1:n.1571_1582del
ENST00000693308.1:c.1551_1562del ENSP00000509770.1:p.Thr518_Leu521del
ENST00000693763.1:n.2663_2674del
ENST00000245407.8:c.1503_1514del MANE Select ENSP00000245407.3:p.Thr502_Leu505del
ENST00000245407.7:c.1503_1514del ENSP00000245407.3:p.Thr502_Leu505del
ENST00000435065.6:c.1575_1586del ENSP00000402760.2:p.Thr526_Leu529del
ENST00000447841.5:c.347_358del
ENST00000448810.5:c.765_776del
ENST00000461013.5:n.8925_8936del
ENST00000475308.1:n.2181_2192del
NM_001308122.1:c.1575_1586del NP_001295051.1:p.Thr526_Leu529del
NM_003060.3:c.1503_1514del NP_003051.1:p.Thr502_Leu505del
XM_011543590.1:c.885_896del XP_011541892.1:p.Thr296_Leu299del
XR_948290.1:n.1629_1640del
XM_011543590.2:c.885_896del XP_011541892.1:p.Thr296_Leu299del
XM_017009778.2:c.975_986del XP_016865267.1:p.Thr326_Leu329del
XR_001742215.1:n.1758_1769del
XR_001742216.1:n.1777_1788del
XR_427718.2:n.1863_1874del
XR_948290.2:n.1629_1640del
XR_948291.2:n.1857_1868del
NM_003060.4:c.1503_1514del MANE Select NP_003051.1:p.Thr502_Leu505del
NM_001308122.2:c.1575_1586del NP_001295051.1:p.Thr526_Leu529del