Canonical Allele Identifier: CA2675202274
Gene: SLC22A5 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.132389034_132389035del , CM000667.2:g.132389034_132389035del GRCh38
NC_000005.9:g.131724726_131724727del , CM000667.1:g.131724726_131724727del GRCh37
NC_000005.8:g.131752625_131752626del NCBI36
NG_008982.1:g.24326_24327del
NG_008982.2:g.24331_24332del

Transcript Alleles

HGVS Amino-acid Change
ENST00000415928.6:c.893+13_893+14del ENSP00000388838.2:n.893+13_893+14del
ENST00000435065.7:c.1124+13_1124+14del ENSP00000402760.2:n.1124+13_1124+14del
ENST00000448810.6:c.1052+13_1052+14del ENSP00000401860.2:n.1052+13_1052+14del
ENST00000685543.1:n.1193+13_1193+14del
ENST00000686757.1:c.*216+13_*216+14del ENSP00000510721.1:n.*216+13_*216+14del
ENST00000687740.1:n.3737+13_3737+14del
ENST00000688151.1:n.2362+13_2362+14del
ENST00000689271.1:c.899+13_899+14del ENSP00000510797.1:n.899+13_899+14del
ENST00000690900.1:c.*216+13_*216+14del ENSP00000510703.1:n.*216+13_*216+14del
ENST00000692212.1:n.1009_1010del
ENST00000692355.1:c.305+13_305+14del
ENST00000692413.1:c.1034+13_1034+14del ENSP00000509374.1:n.1034+13_1034+14del
ENST00000692825.1:c.1120+13_1120+14del ENSP00000509447.1:n.1120+13_1120+14del
ENST00000693308.1:c.1100+13_1100+14del ENSP00000509770.1:n.1100+13_1100+14del
ENST00000693763.1:n.2212+13_2212+14del
ENST00000245407.8:c.1052+13_1052+14del MANE Select ENSP00000245407.3:n.1052+13_1052+14del
ENST00000245407.7:c.1052+13_1052+14del ENSP00000245407.3:n.1052+13_1052+14del
ENST00000435065.6:c.1124+13_1124+14del ENSP00000402760.2:n.1124+13_1124+14del
ENST00000447841.5:c.111+13_111+14del
ENST00000448810.5:c.400+13_400+14del
ENST00000461013.5:n.8474+13_8474+14del
ENST00000475308.1:n.75_76del
ENST00000479605.5:n.155+13_155+14del
NM_001308122.1:c.1124+13_1124+14del NP_001295051.1:n.1124+13_1124+14del
NM_003060.3:c.1052+13_1052+14del NP_003051.1:n.1052+13_1052+14del
XM_011543590.1:c.434+13_434+14del XP_011541892.1:n.434+13_434+14del
XR_427718.1:n.1412+13_1412+14del
XR_948290.1:n.1393+13_1393+14del
XR_948291.1:n.1406+13_1406+14del
XM_011543590.2:c.434+13_434+14del XP_011541892.1:n.434+13_434+14del
XM_017009778.2:c.524+13_524+14del XP_016865267.1:n.524+13_524+14del
XR_001742215.1:n.1393+13_1393+14del
XR_001742216.1:n.1412+13_1412+14del
XR_427718.2:n.1412+13_1412+14del
XR_948290.2:n.1393+13_1393+14del
XR_948291.2:n.1406+13_1406+14del
NM_003060.4:c.1052+13_1052+14del MANE Select NP_003051.1:n.1052+13_1052+14del
NM_001308122.2:c.1124+13_1124+14del NP_001295051.1:n.1124+13_1124+14del