Canonical Allele Identifier: CA2695205169
Gene: SLC22A5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.132392485_132392514del , CM000667.2:g.132392485_132392514del GRCh38
NC_000005.9:g.131728177_131728206del , CM000667.1:g.131728177_131728206del GRCh37
NC_000005.8:g.131756076_131756105del NCBI36
NG_008982.1:g.27777_27806del
NG_008982.2:g.27782_27811del

Transcript Alleles

HGVS Amino-acid change
ENST00000415928.6:c.1161_1190del ENSP00000388838.2:p.Ala388_Thr397del
ENST00000435065.7:c.1392_1421del ENSP00000402760.2:p.Ala465_Thr474del
ENST00000448810.6:c.*172_*201del ENSP00000401860.2:n.*172_*201del
ENST00000685543.1:n.1461_1490del
ENST00000686757.1:c.*484_*513del ENSP00000510721.1:n.*484_*513del
ENST00000687740.1:n.4005_4034del
ENST00000688151.1:n.2630_2659del
ENST00000689271.1:c.1167_1196del ENSP00000510797.1:p.Ala390_Thr399del
ENST00000690900.1:c.*484_*513del ENSP00000510703.1:n.*484_*513del
ENST00000692212.1:n.4460_4489del
ENST00000692355.1:c.573_602del
ENST00000692413.1:c.1302_1331del ENSP00000509374.1:p.Ala435_Thr444del
ENST00000692825.1:c.1388_1417del ENSP00000509447.1:n.1388_1417del
ENST00000693308.1:c.1368_1397del ENSP00000509770.1:p.Ala457_Thr466del
ENST00000693763.1:n.2480_2509del
ENST00000245407.8:c.1320_1349del MANE Select ENSP00000245407.3:p.Ala441_Thr450del
ENST00000245407.7:c.1320_1349del ENSP00000245407.3:p.Ala441_Thr450del
ENST00000435065.6:c.1392_1421del ENSP00000402760.2:p.Ala465_Thr474del
ENST00000447841.5:c.164_193del
ENST00000448810.5:c.582_611del
ENST00000461013.5:n.8742_8771del
ENST00000475308.1:n.1998_2027del
ENST00000479605.5:n.423_452del
NM_001308122.1:c.1392_1421del NP_001295051.1:p.Ala465_Thr474del
NM_003060.3:c.1320_1349del NP_003051.1:p.Ala441_Thr450del
XM_011543590.1:c.702_731del XP_011541892.1:p.Ala235_Thr244del
XR_948290.1:n.1446_1475del
XM_011543590.2:c.702_731del XP_011541892.1:p.Ala235_Thr244del
XM_017009778.2:c.792_821del XP_016865267.1:p.Ala265_Thr274del
XR_001742215.1:n.1575_1604del
XR_001742216.1:n.1594_1623del
XR_427718.2:n.1680_1709del
XR_948290.2:n.1446_1475del
XR_948291.2:n.1674_1703del
NM_003060.4:c.1320_1349del MANE Select NP_003051.1:p.Ala441_Thr450del
NM_001308122.2:c.1392_1421del NP_001295051.1:p.Ala465_Thr474del