Canonical Allele Identifier: CA1583150253
Gene: SLC22A5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.132390876_132390879delinsCCTT , CM000667.2:g.132390876_132390879delinsCCTT GRCh38
NC_000005.9:g.131726568_131726571delinsCCTT , CM000667.1:g.131726568_131726571delinsCCTT GRCh37
NC_000005.8:g.131754467_131754470delinsCCTT NCBI36
NG_008982.1:g.26168_26171delinsCCTT
NG_008982.2:g.26173_26176delinsCCTT

Transcript Alleles

HGVS Amino-acid Change
ENST00000415928.6:c.1080_1083delinsCCTT ENSP00000388838.2:p.Val360=
ENST00000435065.7:c.1311_1314delinsCCTT ENSP00000402760.2:p.Val437=
ENST00000448810.6:c.*91_*94delinsCCTT ENSP00000401860.2:n.*91_*94delinsCCTT
ENST00000685543.1:n.1380_1383delinsCCTT
ENST00000686757.1:c.*403_*406delinsCCTT ENSP00000510721.1:n.*403_*406delinsCCTT
ENST00000687740.1:n.3924_3927delinsCCTT
ENST00000688151.1:n.2549_2552delinsCCTT
ENST00000689271.1:c.1086_1089delinsCCTT ENSP00000510797.1:p.Val362=
ENST00000690900.1:c.*403_*406delinsCCTT ENSP00000510703.1:n.*403_*406delinsCCTT
ENST00000692212.1:n.2851_2854delinsCCTT
ENST00000692355.1:c.492_495delinsCCTT
ENST00000692413.1:c.1221_1224delinsCCTT ENSP00000509374.1:p.Val407=
ENST00000692825.1:c.1307_1310delinsCCTT ENSP00000509447.1:n.1307_1310delinsCCTT
ENST00000693308.1:c.1287_1290delinsCCTT ENSP00000509770.1:p.Val429=
ENST00000693763.1:n.2399_2402delinsCCTT
ENST00000245407.8:c.1239_1242delinsCCTT MANE Select ENSP00000245407.3:p.Val413=
ENST00000245407.7:c.1239_1242delinsCCTT ENSP00000245407.3:p.Val413=
ENST00000435065.6:c.1311_1314delinsCCTT ENSP00000402760.2:p.Val437=
ENST00000447841.5:c.112-1557_112-1554delinsCCTT
ENST00000448810.5:c.501_504delinsCCTT
ENST00000461013.5:n.8661_8664delinsCCTT
ENST00000475308.1:n.1917_1920delinsCCTT
ENST00000479605.5:n.342_345delinsCCTT
NM_001308122.1:c.1311_1314delinsCCTT NP_001295051.1:p.Val437=
NM_003060.3:c.1239_1242delinsCCTT NP_003051.1:p.Val413=
XM_011543590.1:c.621_624delinsCCTT XP_011541892.1:p.Val207=
XR_427718.1:n.1599_1602delinsCCTT
XR_948290.1:n.1394-1557_1394-1554delinsCCTT
XR_948291.1:n.1593_1596delinsCCTT
XM_011543590.2:c.621_624delinsCCTT XP_011541892.1:p.Val207=
XM_017009778.2:c.711_714delinsCCTT XP_016865267.1:p.Val237=
XR_001742215.1:n.1494_1497delinsCCTT
XR_001742216.1:n.1513_1516delinsCCTT
XR_427718.2:n.1599_1602delinsCCTT
XR_948290.2:n.1394-1557_1394-1554delinsCCTT
XR_948291.2:n.1593_1596delinsCCTT
NM_003060.4:c.1239_1242delinsCCTT MANE Select NP_003051.1:p.Val413=
NM_001308122.2:c.1311_1314delinsCCTT NP_001295051.1:p.Val437=