Canonical Allele Identifier: CA2580072643

Gene: SLC22A5

Linked Data

• ClinVar Variation Id: 2120259
• ClinVar RCV Id: RCV003059291

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132390727del , CM000667.2:g.132390727del	GRCh38
NC_000005.9:g.131726419del , CM000667.1:g.131726419del	GRCh37
NC_000005.8:g.131754318del	NCBI36
NG_008982.1:g.26019del
NG_008982.2:g.26024del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000415928.6:c.931del	ENSP00000388838.2:p.Asp311IlefsTer11
ENST00000435065.7:c.1162del	ENSP00000402760.2:p.Asp388IlefsTer11
ENST00000448810.6:c.1053-49del	ENSP00000401860.2:n.1053-49del
ENST00000685543.1:n.1231del
ENST00000686757.1:c.*254del	ENSP00000510721.1:n.*254del
ENST00000687740.1:n.3775del
ENST00000688151.1:n.2400del
ENST00000689271.1:c.937del	ENSP00000510797.1:p.Asp313IlefsTer11
ENST00000690900.1:c.*254del	ENSP00000510703.1:n.*254del
ENST00000692212.1:n.2702del
ENST00000692355.1:c.343del
ENST00000692413.1:c.1072del	ENSP00000509374.1:p.Asp358IlefsTer11
ENST00000692825.1:c.1158del	ENSP00000509447.1:n.1158del
ENST00000693308.1:c.1138del	ENSP00000509770.1:p.Asp380IlefsTer11
ENST00000693763.1:n.2250del
ENST00000245407.8:c.1090del MANE Select	ENSP00000245407.3:p.Asp364IlefsTer11
ENST00000245407.7:c.1090del	ENSP00000245407.3:p.Asp364IlefsTer11
ENST00000435065.6:c.1162del	ENSP00000402760.2:p.Asp388IlefsTer11
ENST00000447841.5:c.112-1706del
ENST00000448810.5:c.401-49del
ENST00000461013.5:n.8512del
ENST00000475308.1:n.1768del
ENST00000479605.5:n.193del
NM_001308122.1:c.1162del	NP_001295051.1:p.Asp388IlefsTer11
NM_003060.3:c.1090del	NP_003051.1:p.Asp364IlefsTer11
XM_011543590.1:c.472del	XP_011541892.1:p.Asp158IlefsTer11
XR_427718.1:n.1450del
XR_948290.1:n.1394-1706del
XR_948291.1:n.1444del
XM_011543590.2:c.472del	XP_011541892.1:p.Asp158IlefsTer11
XM_017009778.2:c.562del	XP_016865267.1:p.Asp188IlefsTer11
XR_001742215.1:n.1394-49del
XR_001742216.1:n.1413-49del
XR_427718.2:n.1450del
XR_948290.2:n.1394-1706del
XR_948291.2:n.1444del
NM_003060.4:c.1090del MANE Select	NP_003051.1:p.Asp364IlefsTer11
NM_001308122.2:c.1162del	NP_001295051.1:p.Asp388IlefsTer11