Canonical Allele Identifier: CA2675200325
Gene: SLC22A5 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.132385512_132385516del , CM000667.2:g.132385512_132385516del GRCh38
NC_000005.9:g.131721204_131721208del , CM000667.1:g.131721204_131721208del GRCh37
NC_000005.8:g.131749103_131749107del NCBI36
NG_008982.1:g.20804_20808del
NG_008982.2:g.20809_20813del

Transcript Alleles

HGVS Amino-acid change
ENST00000415928.6:c.665+1198_665+1202del ENSP00000388838.2:n.665+1198_665+1202del
ENST00000435065.7:c.896+13_896+17del ENSP00000402760.2:n.896+13_896+17del
ENST00000448810.6:c.824+13_824+17del ENSP00000401860.2:n.824+13_824+17del
ENST00000686757.1:c.843+13_843+17del ENSP00000510721.1:n.843+13_843+17del
ENST00000687740.1:n.1997_2001del
ENST00000688151.1:n.2016+13_2016+17del
ENST00000689271.1:c.671+1192_671+1196del ENSP00000510797.1:n.671+1192_671+1196del
ENST00000690900.1:c.795+13_795+17del ENSP00000510703.1:n.795+13_795+17del
ENST00000692212.1:n.650+13_650+17del
ENST00000692355.1:c.204+1211_204+1215del
ENST00000692413.1:c.843+13_843+17del ENSP00000509374.1:n.843+13_843+17del
ENST00000692825.1:c.892+13_892+17del ENSP00000509447.1:n.892+13_892+17del
ENST00000693308.1:c.837+13_837+17del ENSP00000509770.1:n.837+13_837+17del
ENST00000693763.1:n.1984+13_1984+17del
ENST00000245407.8:c.824+13_824+17del MANE Select ENSP00000245407.3:n.824+13_824+17del
ENST00000245407.7:c.824+13_824+17del ENSP00000245407.3:n.824+13_824+17del
ENST00000415928.5:c.593+13_593+17del ENSP00000388838.1:n.593+13_593+17del
ENST00000435065.6:c.896+13_896+17del ENSP00000402760.2:n.896+13_896+17del
ENST00000437841.6:c.*139+13_*139+17del ENSP00000400553.1:n.*139+13_*139+17del
ENST00000448810.5:c.172+13_172+17del
ENST00000461013.5:n.8246+13_8246+17del
NM_001308122.1:c.896+13_896+17del NP_001295051.1:n.896+13_896+17del
NM_003060.3:c.824+13_824+17del NP_003051.1:n.824+13_824+17del
XM_011543590.1:c.206+13_206+17del XP_011541892.1:n.206+13_206+17del
XR_427718.1:n.1184+13_1184+17del
XR_948290.1:n.1165+13_1165+17del
XR_948291.1:n.1178+13_1178+17del
XM_011543590.2:c.206+13_206+17del XP_011541892.1:n.206+13_206+17del
XM_017009778.2:c.296+13_296+17del XP_016865267.1:n.296+13_296+17del
XR_001742215.1:n.1165+13_1165+17del
XR_001742216.1:n.1184+13_1184+17del
XR_427718.2:n.1184+13_1184+17del
XR_948290.2:n.1165+13_1165+17del
XR_948291.2:n.1178+13_1178+17del
NM_003060.4:c.824+13_824+17del MANE Select NP_003051.1:n.824+13_824+17del
NM_001308122.2:c.896+13_896+17del NP_001295051.1:n.896+13_896+17del