Canonical Allele Identifier: CA2841843267
Gene: SLC22A5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.132390889dup , CM000667.2:g.132390889dup GRCh38
NC_000005.9:g.131726581dup , CM000667.1:g.131726581dup GRCh37
NC_000005.8:g.131754480dup NCBI36
NG_008982.1:g.26181dup
NG_008982.2:g.26186dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000415928.6:c.1093dup ENSP00000388838.2:p.Gln365ProfsTer?
ENST00000435065.7:c.1324dup ENSP00000402760.2:p.Gln442ProfsTer?
ENST00000448810.6:c.*104dup ENSP00000401860.2:n.*104dup
ENST00000685543.1:n.1393dup
ENST00000686757.1:c.*416dup ENSP00000510721.1:n.*416dup
ENST00000687740.1:n.3937dup
ENST00000688151.1:n.2562dup
ENST00000689271.1:c.1099dup ENSP00000510797.1:p.Gln367ProfsTer?
ENST00000690900.1:c.*416dup ENSP00000510703.1:n.*416dup
ENST00000692212.1:n.2864dup
ENST00000692355.1:c.505dup
ENST00000692413.1:c.1234dup ENSP00000509374.1:p.Gln412ProfsTer?
ENST00000692825.1:c.1320dup ENSP00000509447.1:n.1320dup
ENST00000693308.1:c.1300dup ENSP00000509770.1:p.Gln434ProfsTer?
ENST00000693763.1:n.2412dup
ENST00000245407.8:c.1252dup MANE Select ENSP00000245407.3:p.Gln418ProfsTer?
ENST00000245407.7:c.1252dup ENSP00000245407.3:p.Gln418ProfsTer?
ENST00000435065.6:c.1324dup ENSP00000402760.2:p.Gln442ProfsTer?
ENST00000447841.5:c.112-1544dup
ENST00000448810.5:c.514dup
ENST00000461013.5:n.8674dup
ENST00000475308.1:n.1930dup
ENST00000479605.5:n.355dup
NM_001308122.1:c.1324dup NP_001295051.1:p.Gln442ProfsTer?
NM_003060.3:c.1252dup NP_003051.1:p.Gln418ProfsTer?
XM_011543590.1:c.634dup XP_011541892.1:p.Gln212ProfsTer?
XR_427718.1:n.1612dup
XR_948290.1:n.1394-1544dup
XR_948291.1:n.1606dup
XM_011543590.2:c.634dup XP_011541892.1:p.Gln212ProfsTer?
XM_017009778.2:c.724dup XP_016865267.1:p.Gln242ProfsTer?
XR_001742215.1:n.1507dup
XR_001742216.1:n.1526dup
XR_427718.2:n.1612dup
XR_948290.2:n.1394-1544dup
XR_948291.2:n.1606dup
NM_003060.4:c.1252dup MANE Select NP_003051.1:p.Gln418ProfsTer?
NM_001308122.2:c.1324dup NP_001295051.1:p.Gln442ProfsTer?