Canonical Allele Identifier: CA658761169
Gene: SLC22A5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.132393781dup , CM000667.2:g.132393781dup GRCh38
NC_000005.9:g.131729473dup , CM000667.1:g.131729473dup GRCh37
NC_000005.8:g.131757372dup NCBI36
NG_008982.1:g.29073dup
NG_008982.2:g.29078dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000415928.6:c.1292-404dup ENSP00000388838.2:n.1292-404dup
ENST00000435065.7:c.1628dup ENSP00000402760.2:p.Asp543GlufsTer4
ENST00000448810.6:c.*408dup ENSP00000401860.2:n.*408dup
ENST00000685543.1:n.1697dup
ENST00000686757.1:c.*720dup ENSP00000510721.1:n.*720dup
ENST00000686868.1:n.548dup
ENST00000687740.1:n.4241dup
ENST00000688151.1:n.2866dup
ENST00000689271.1:c.1403dup ENSP00000510797.1:p.Asp468GlufsTer4
ENST00000690900.1:c.*720dup ENSP00000510703.1:n.*720dup
ENST00000692212.1:n.4696dup
ENST00000692355.1:c.809dup
ENST00000692413.1:c.1538dup ENSP00000509374.1:p.Asp513GlufsTer4
ENST00000692825.1:c.1624dup ENSP00000509447.1:n.1624dup
ENST00000693308.1:c.1604dup ENSP00000509770.1:p.Asp535GlufsTer4
ENST00000693763.1:n.2716dup
ENST00000245407.8:c.1556dup MANE Select ENSP00000245407.3:p.Asp519GlufsTer4
ENST00000245407.7:c.1556dup ENSP00000245407.3:p.Asp519GlufsTer4
ENST00000435065.6:c.1628dup ENSP00000402760.2:p.Asp543GlufsTer4
ENST00000447841.5:c.400dup
ENST00000448810.5:c.818dup
ENST00000461013.5:n.8978dup
ENST00000475308.1:n.2234dup
NM_001308122.1:c.1628dup NP_001295051.1:p.Asp543GlufsTer4
NM_003060.3:c.1556dup NP_003051.1:p.Asp519GlufsTer4
XM_011543590.1:c.938dup XP_011541892.1:p.Asp313GlufsTer4
XR_948290.1:n.1682dup
XM_011543590.2:c.938dup XP_011541892.1:p.Asp313GlufsTer4
XM_017009778.2:c.1028dup XP_016865267.1:p.Asp343GlufsTer4
XR_001742215.1:n.1811dup
XR_001742216.1:n.1830dup
XR_427718.2:n.1916dup
XR_948290.2:n.1682dup
XR_948291.2:n.1910dup
NM_003060.4:c.1556dup MANE Select NP_003051.1:p.Asp519GlufsTer4
NM_001308122.2:c.1628dup NP_001295051.1:p.Asp543GlufsTer4