Canonical Allele Identifier: CA2578401854

Gene: SLC22A5

Linked Data

• ClinVar Variation Id: 2810987
• ClinVar RCV Id: RCV003616284

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132369992_132369993insCCGGT , CM000667.2:g.132369992_132369993insCCGGT	GRCh38
NC_000005.9:g.131705684_131705685insCCGGT , CM000667.1:g.131705684_131705685insCCGGT	GRCh37
NC_000005.8:g.131733583_131733584insCCGGT	NCBI36
NG_008982.1:g.5284_5285insCCGGT
NG_008982.2:g.5289_5290insCCGGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000415928.6:c.20_21insCCGGT	ENSP00000388838.2:p.Thr8ArgfsTer2
ENST00000435065.7:c.20_21insCCGGT	ENSP00000402760.2:p.Thr8ArgfsTer2
ENST00000448810.6:c.20_21insCCGGT	ENSP00000401860.2:p.Thr8ArgfsTer2
ENST00000686757.1:c.20_21insCCGGT	ENSP00000510721.1:p.Thr8ArgfsTer2
ENST00000687740.1:n.154_155insCCGGT
ENST00000689271.1:c.20_21insCCGGT	ENSP00000510797.1:p.Thr8ArgfsTer2
ENST00000690900.1:c.20_21insCCGGT	ENSP00000510703.1:p.Thr8ArgfsTer2
ENST00000692413.1:c.20_21insCCGGT	ENSP00000509374.1:p.Thr8ArgfsTer2
ENST00000692825.1:c.20_21insCCGGT	ENSP00000509447.1:p.Thr8ArgfsTer2
ENST00000693308.1:c.20_21insCCGGT	ENSP00000509770.1:p.Thr8ArgfsTer2
ENST00000693763.1:n.154_155insCCGGT
ENST00000245407.8:c.20_21insCCGGT MANE Select	ENSP00000245407.3:p.Thr8ArgfsTer2
ENST00000245407.7:c.20_21insCCGGT	ENSP00000245407.3:p.Thr8ArgfsTer2
ENST00000435065.6:c.20_21insCCGGT	ENSP00000402760.2:p.Thr8ArgfsTer2
ENST00000437841.6:c.20_21insCCGGT	ENSP00000400553.1:p.Thr8ArgfsTer2
NM_001308122.1:c.20_21insCCGGT	NP_001295051.1:p.Thr8ArgfsTer2
NM_003060.3:c.20_21insCCGGT	NP_003051.1:p.Thr8ArgfsTer2
XR_427718.1:n.289_290insCCGGT
XR_948290.1:n.289_290insCCGGT
XR_948291.1:n.289_290insCCGGT
XR_001742215.1:n.289_290insCCGGT
XR_001742216.1:n.289_290insCCGGT
XR_427718.2:n.289_290insCCGGT
XR_948290.2:n.289_290insCCGGT
XR_948291.2:n.289_290insCCGGT
NM_003060.4:c.20_21insCCGGT MANE Select	NP_003051.1:p.Thr8ArgfsTer2
NM_001308122.2:c.20_21insCCGGT	NP_001295051.1:p.Thr8ArgfsTer2