Canonical Allele Identifier: CA2573138876

Gene: SLC22A5

Linked Data

• ClinVar Variation Id: 1521895
• ClinVar RCV Id: RCV002034142
• dbSNP Id: rs2126787981

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132388916_132388924del , CM000667.2:g.132388916_132388924del	GRCh38
NC_000005.9:g.131724608_131724616del , CM000667.1:g.131724608_131724616del	GRCh37
NC_000005.8:g.131752507_131752515del	NCBI36
NG_008982.1:g.24208_24216del
NG_008982.2:g.24213_24221del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000415928.6:c.793-5_796del
ENST00000435065.7:c.1024-5_1027del
ENST00000448810.6:c.952-5_955del
ENST00000685543.1:n.1088_1096del
ENST00000686757.1:c.*116-5_*119del
ENST00000687740.1:n.3637-5_3640del
ENST00000688151.1:n.2262-5_2265del
ENST00000689271.1:c.799-5_802del
ENST00000690900.1:c.*116-5_*119del
ENST00000692212.1:n.896-5_899del
ENST00000692355.1:c.205-5_208del
ENST00000692413.1:c.934-5_937del
ENST00000692825.1:c.1020-5_1023del
ENST00000693308.1:c.1000-5_1003del
ENST00000693763.1:n.2112-5_2115del
ENST00000245407.8:c.952-5_955del
ENST00000245407.7:c.952-5_955del
ENST00000435065.6:c.1024-5_1027del
ENST00000437841.6:c.*267-5_*270del
ENST00000447841.5:c.6_14del
ENST00000448810.5:c.300-5_303del
ENST00000461013.5:n.8374-5_8377del
ENST00000479605.5:n.55-5_58del
NM_001308122.1:c.1024-5_1027del
NM_003060.3:c.952-5_955del
XM_011543590.1:c.334-5_337del
XR_427718.1:n.1312-5_1315del
XR_948290.1:n.1293-5_1296del
XR_948291.1:n.1306-5_1309del
XM_011543590.2:c.334-5_337del
XM_017009778.2:c.424-5_427del
XR_001742215.1:n.1293-5_1296del
XR_001742216.1:n.1312-5_1315del
XR_427718.2:n.1312-5_1315del
XR_948290.2:n.1293-5_1296del
XR_948291.2:n.1306-5_1309del
NM_003060.4:c.952-5_955del
NM_001308122.2:c.1024-5_1027del