Canonical Allele Identifier: CA2570337165
Gene: SLC22A5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.132394201_132394221del , CM000667.2:g.132394201_132394221del GRCh38
NC_000005.9:g.131729893_131729913del , CM000667.1:g.131729893_131729913del GRCh37
NC_000005.8:g.131757792_131757812del NCBI36
NG_008982.1:g.29493_29513del
NG_008982.2:g.29498_29518del

Transcript Alleles

HGVS Amino-acid Change
ENST00000415928.6:c.*12_*32del ENSP00000388838.2:n.*12_*32del
ENST00000435065.7:c.1675_1695del ENSP00000402760.2:p.Thr559_Met565del
ENST00000448810.6:c.*455_*475del ENSP00000401860.2:n.*455_*475del
ENST00000685543.1:n.1744_1764del
ENST00000686757.1:c.*767_*787del ENSP00000510721.1:n.*767_*787del
ENST00000686868.1:n.595_615del
ENST00000687740.1:n.4288_4308del
ENST00000688151.1:n.2913_2933del
ENST00000689271.1:c.1450_1470del ENSP00000510797.1:p.Thr484_Met490del
ENST00000690900.1:c.*767_*787del ENSP00000510703.1:n.*767_*787del
ENST00000692212.1:n.4743_4763del
ENST00000692355.1:c.856_876del
ENST00000692413.1:c.1585_1605del ENSP00000509374.1:p.Thr529_Met535del
ENST00000692825.1:c.1671_1691del ENSP00000509447.1:n.1671_1691del
ENST00000693308.1:c.1651_1671del ENSP00000509770.1:p.Thr551_Met557del
ENST00000693763.1:n.2763_2783del
ENST00000245407.8:c.1603_1623del MANE Select ENSP00000245407.3:p.Thr535_Met541del
ENST00000245407.7:c.1603_1623del ENSP00000245407.3:p.Thr535_Met541del
ENST00000435065.6:c.1675_1695del ENSP00000402760.2:p.Thr559_Met565del
ENST00000447841.5:c.447_467del
ENST00000461013.5:n.9025_9045del
ENST00000475308.1:n.2281_2301del
NM_001308122.1:c.1675_1695del NP_001295051.1:p.Thr559_Met565del
NM_003060.3:c.1603_1623del NP_003051.1:p.Thr535_Met541del
XM_011543590.1:c.985_1005del XP_011541892.1:p.Thr329_Met335del
XR_948290.1:n.1729_1749del
XM_011543590.2:c.985_1005del XP_011541892.1:p.Thr329_Met335del
XM_017009778.2:c.1075_1095del XP_016865267.1:p.Thr359_Met365del
XR_001742215.1:n.1858_1878del
XR_001742216.1:n.1877_1897del
XR_427718.2:n.1963_1983del
XR_948290.2:n.1729_1749del
XR_948291.2:n.1957_1977del
NM_003060.4:c.1603_1623del MANE Select NP_003051.1:p.Thr535_Met541del
NM_001308122.2:c.1675_1695del NP_001295051.1:p.Thr559_Met565del