Canonical Allele Identifier: CA342660

Gene: SLC22A5

Linked Data

• ClinVar Variation Id: 25399
• ClinVar RCV Id: RCV000022352
• dbSNP Id: rs386134209
• gnomAD v2: 5-131722730-TC-T
• gnomAD v4: 5-132387038-TC-T
• COSMIC: COSM1433031 ; COSM5157689
• MyVariant Identifiers: chr5:g.131722731del (hg19) ; chr5:g.132387039del (hg38)
• PubMed: PMID:12210323

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132387044del , CM000667.2:g.132387044del	GRCh38
NC_000005.9:g.131722736del , CM000667.1:g.131722736del	GRCh37
NC_000005.8:g.131750635del	NCBI36
NG_008982.1:g.22336del
NG_008982.2:g.22341del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000415928.6:c.685del	ENSP00000388838.2:p.Arg229AspfsTer14
ENST00000435065.7:c.916del	ENSP00000402760.2:p.Arg306AspfsTer14
ENST00000448810.6:c.844del	ENSP00000401860.2:p.Arg282AspfsTer14
ENST00000686757.1:c.*8del	ENSP00000510721.1:n.*8del
ENST00000687740.1:n.3529del
ENST00000688151.1:n.2154del
ENST00000689271.1:c.691del	ENSP00000510797.1:p.Arg231AspfsTer14
ENST00000690900.1:c.*8del	ENSP00000510703.1:n.*8del
ENST00000692212.1:n.788del
ENST00000692355.1:c.205-1877del
ENST00000692413.1:c.844-18del	ENSP00000509374.1:n.844-18del
ENST00000692825.1:c.912del	ENSP00000509447.1:n.912del
ENST00000693308.1:c.892del	ENSP00000509770.1:p.Arg298AspfsTer14
ENST00000693763.1:n.2004del
ENST00000245407.8:c.844del MANE Select	ENSP00000245407.3:p.Arg282AspfsTer14
ENST00000245407.7:c.844del	ENSP00000245407.3:p.Arg282AspfsTer14
ENST00000415928.5:c.613del	ENSP00000388838.1:p.Arg205AspfsTer14
ENST00000435065.6:c.916del	ENSP00000402760.2:p.Arg306AspfsTer14
ENST00000437841.6:c.*159del	ENSP00000400553.1:n.*159del
ENST00000448810.5:c.192del
ENST00000461013.5:n.8266del
NM_001308122.1:c.916del	NP_001295051.1:p.Arg306AspfsTer14
NM_003060.3:c.844del	NP_003051.1:p.Arg282AspfsTer14
XM_011543590.1:c.226del	XP_011541892.1:p.Arg76AspfsTer14
XR_427718.1:n.1204del
XR_948290.1:n.1185del
XR_948291.1:n.1198del
XM_011543590.2:c.226del	XP_011541892.1:p.Arg76AspfsTer14
XM_017009778.2:c.316del	XP_016865267.1:p.Arg106AspfsTer14
XR_001742215.1:n.1185del
XR_001742216.1:n.1204del
XR_427718.2:n.1204del
XR_948290.2:n.1185del
XR_948291.2:n.1198del
NM_003060.4:c.844del MANE Select	NP_003051.1:p.Arg282AspfsTer14
NM_001308122.2:c.916del	NP_001295051.1:p.Arg306AspfsTer14