Canonical Allele Identifier: CA2499217561
Gene: SLC22A5 HGNC NCBI

Linked Data

ClinVar Variation Id: 1069784
ClinVar RCV Id: RCV001381749
dbSNP Id: rs2126789878

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.132390877del , CM000667.2:g.132390877del GRCh38
NC_000005.9:g.131726569del , CM000667.1:g.131726569del GRCh37
NC_000005.8:g.131754468del NCBI36
NG_008982.1:g.26169del
NG_008982.2:g.26174del

Transcript Alleles

HGVS Amino-acid Change
ENST00000415928.6:c.1081del ENSP00000388838.2:p.Leu361PhefsTer19
ENST00000435065.7:c.1312del ENSP00000402760.2:p.Leu438PhefsTer19
ENST00000448810.6:c.*92del ENSP00000401860.2:n.*92del
ENST00000685543.1:n.1381del
ENST00000686757.1:c.*404del ENSP00000510721.1:n.*404del
ENST00000687740.1:n.3925del
ENST00000688151.1:n.2550del
ENST00000689271.1:c.1087del ENSP00000510797.1:p.Leu363PhefsTer19
ENST00000690900.1:c.*404del ENSP00000510703.1:n.*404del
ENST00000692212.1:n.2852del
ENST00000692355.1:c.493del
ENST00000692413.1:c.1222del ENSP00000509374.1:p.Leu408PhefsTer19
ENST00000692825.1:c.1308del ENSP00000509447.1:n.1308del
ENST00000693308.1:c.1288del ENSP00000509770.1:p.Leu430PhefsTer19
ENST00000693763.1:n.2400del
ENST00000245407.8:c.1240del MANE Select ENSP00000245407.3:p.Leu414PhefsTer19
ENST00000245407.7:c.1240del ENSP00000245407.3:p.Leu414PhefsTer19
ENST00000435065.6:c.1312del ENSP00000402760.2:p.Leu438PhefsTer19
ENST00000447841.5:c.112-1556del
ENST00000448810.5:c.502del
ENST00000461013.5:n.8662del
ENST00000475308.1:n.1918del
ENST00000479605.5:n.343del
NM_001308122.1:c.1312del NP_001295051.1:p.Leu438PhefsTer19
NM_003060.3:c.1240del NP_003051.1:p.Leu414PhefsTer19
XM_011543590.1:c.622del XP_011541892.1:p.Leu208PhefsTer19
XR_427718.1:n.1600del
XR_948290.1:n.1394-1556del
XR_948291.1:n.1594del
XM_011543590.2:c.622del XP_011541892.1:p.Leu208PhefsTer19
XM_017009778.2:c.712del XP_016865267.1:p.Leu238PhefsTer19
XR_001742215.1:n.1495del
XR_001742216.1:n.1514del
XR_427718.2:n.1600del
XR_948290.2:n.1394-1556del
XR_948291.2:n.1594del
NM_003060.4:c.1240del MANE Select NP_003051.1:p.Leu414PhefsTer19
NM_001308122.2:c.1312del NP_001295051.1:p.Leu438PhefsTer19