Canonical Allele Identifier: CA2695198740

Gene: SLC22A5

Linked Data

• ClinVar Variation Id: 2678798
• ClinVar RCV Id: RCV003472789

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132385353del , CM000667.2:g.132385353del	GRCh38
NC_000005.9:g.131721045del , CM000667.1:g.131721045del	GRCh37
NC_000005.8:g.131748944del	NCBI36
NG_008982.1:g.20645del
NG_008982.2:g.20650del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000415928.6:c.665+1039del	ENSP00000388838.2:n.665+1039del
ENST00000435065.7:c.750del	ENSP00000402760.2:p.Arg251ValfsTer2
ENST00000448810.6:c.678del	ENSP00000401860.2:p.Arg227ValfsTer2
ENST00000686757.1:c.697del	ENSP00000510721.1:p.Ser233ArgfsTer?
ENST00000687740.1:n.1838del
ENST00000688151.1:n.1870del
ENST00000689271.1:c.671+1033del	ENSP00000510797.1:n.671+1033del
ENST00000690900.1:c.672-23del	ENSP00000510703.1:n.672-23del
ENST00000692212.1:n.504del
ENST00000692355.1:c.204+1052del
ENST00000692413.1:c.697del	ENSP00000509374.1:p.Ser233ArgfsTer?
ENST00000692825.1:c.746del	ENSP00000509447.1:n.746del
ENST00000693308.1:c.691del	ENSP00000509770.1:p.Ser231ArgfsTer?
ENST00000693763.1:n.1838del
ENST00000245407.8:c.678del MANE Select	ENSP00000245407.3:p.Arg227ValfsTer2
ENST00000245407.7:c.678del	ENSP00000245407.3:p.Arg227ValfsTer2
ENST00000415928.5:c.447del	ENSP00000388838.1:p.Arg150ValfsTer2
ENST00000435065.6:c.750del	ENSP00000402760.2:p.Arg251ValfsTer2
ENST00000437841.6:c.419del	ENSP00000400553.1:p.Phe140SerfsTer?
ENST00000448810.5:c.26del
ENST00000461013.5:n.8100del
NM_001308122.1:c.750del	NP_001295051.1:p.Arg251ValfsTer2
NM_003060.3:c.678del	NP_003051.1:p.Arg227ValfsTer2
XM_011543590.1:c.60del	XP_011541892.1:p.Arg21ValfsTer2
XR_427718.1:n.1038del
XR_948290.1:n.1019del
XR_948291.1:n.1032del
XM_011543590.2:c.60del	XP_011541892.1:p.Arg21ValfsTer2
XM_017009778.2:c.150del	XP_016865267.1:p.Arg51ValfsTer2
XR_001742215.1:n.1019del
XR_001742216.1:n.1038del
XR_427718.2:n.1038del
XR_948290.2:n.1019del
XR_948291.2:n.1032del
NM_003060.4:c.678del MANE Select	NP_003051.1:p.Arg227ValfsTer2
NM_001308122.2:c.750del	NP_001295051.1:p.Arg251ValfsTer2