Canonical Allele Identifier: CA1583144573
Gene: SLC22A5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.132393778_132393779delinsCA , CM000667.2:g.132393778_132393779delinsCA GRCh38
NC_000005.9:g.131729470_131729471delinsCA , CM000667.1:g.131729470_131729471delinsCA GRCh37
NC_000005.8:g.131757369_131757370delinsCA NCBI36
NG_008982.1:g.29070_29071delinsCA
NG_008982.2:g.29075_29076delinsCA

Transcript Alleles

HGVS Amino-acid Change
ENST00000415928.6:c.1292-407_1292-406delinsCA ENSP00000388838.2:n.1292-407_1292-406delinsCA
ENST00000435065.7:c.1625_1626delinsCA ENSP00000402760.2:p.Pro542=
ENST00000448810.6:c.*405_*406delinsCA ENSP00000401860.2:n.*405_*406delinsCA
ENST00000685543.1:n.1694_1695delinsCA
ENST00000686757.1:c.*717_*718delinsCA ENSP00000510721.1:n.*717_*718delinsCA
ENST00000686868.1:n.545_546delinsCA
ENST00000687740.1:n.4238_4239delinsCA
ENST00000688151.1:n.2863_2864delinsCA
ENST00000689271.1:c.1400_1401delinsCA ENSP00000510797.1:p.Pro467=
ENST00000690900.1:c.*717_*718delinsCA ENSP00000510703.1:n.*717_*718delinsCA
ENST00000692212.1:n.4693_4694delinsCA
ENST00000692355.1:c.806_807delinsCA
ENST00000692413.1:c.1535_1536delinsCA ENSP00000509374.1:p.Pro512=
ENST00000692825.1:c.1621_1622delinsCA ENSP00000509447.1:n.1621_1622delinsCA
ENST00000693308.1:c.1601_1602delinsCA ENSP00000509770.1:p.Pro534=
ENST00000693763.1:n.2713_2714delinsCA
ENST00000245407.8:c.1553_1554delinsCA MANE Select ENSP00000245407.3:p.Pro518=
ENST00000245407.7:c.1553_1554delinsCA ENSP00000245407.3:p.Pro518=
ENST00000435065.6:c.1625_1626delinsCA ENSP00000402760.2:p.Pro542=
ENST00000447841.5:c.397_398delinsCA
ENST00000448810.5:c.815_816delinsCA
ENST00000461013.5:n.8975_8976delinsCA
ENST00000475308.1:n.2231_2232delinsCA
NM_001308122.1:c.1625_1626delinsCA NP_001295051.1:p.Pro542=
NM_003060.3:c.1553_1554delinsCA NP_003051.1:p.Pro518=
XM_011543590.1:c.935_936delinsCA XP_011541892.1:p.Pro312=
XR_948290.1:n.1679_1680delinsCA
XM_011543590.2:c.935_936delinsCA XP_011541892.1:p.Pro312=
XM_017009778.2:c.1025_1026delinsCA XP_016865267.1:p.Pro342=
XR_001742215.1:n.1808_1809delinsCA
XR_001742216.1:n.1827_1828delinsCA
XR_427718.2:n.1913_1914delinsCA
XR_948290.2:n.1679_1680delinsCA
XR_948291.2:n.1907_1908delinsCA
NM_003060.4:c.1553_1554delinsCA MANE Select NP_003051.1:p.Pro518=
NM_001308122.2:c.1625_1626delinsCA NP_001295051.1:p.Pro542=