Canonical Allele Identifier: CA2573138882

Gene: SLC22A5

Linked Data

• ClinVar Variation Id: 1367433
• ClinVar RCV Id: RCV001962303
• dbSNP Id: rs2126791456

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132392515del , CM000667.2:g.132392515del	GRCh38
NC_000005.9:g.131728207del , CM000667.1:g.131728207del	GRCh37
NC_000005.8:g.131756106del	NCBI36
NG_008982.1:g.27807del
NG_008982.2:g.27812del

Transcript Alleles

HGVS	Amino-acid change
ENST00000415928.6:c.1191del	ENSP00000388838.2:p.Ala398ProfsTer8
ENST00000435065.7:c.1422del	ENSP00000402760.2:p.Ala475ProfsTer8
ENST00000448810.6:c.*202del	ENSP00000401860.2:n.*202del
ENST00000685543.1:n.1491del
ENST00000686757.1:c.*514del	ENSP00000510721.1:n.*514del
ENST00000687740.1:n.4035del
ENST00000688151.1:n.2660del
ENST00000689271.1:c.1197del	ENSP00000510797.1:p.Ala400ProfsTer8
ENST00000690900.1:c.*514del	ENSP00000510703.1:n.*514del
ENST00000692212.1:n.4490del
ENST00000692355.1:c.603del
ENST00000692413.1:c.1332del	ENSP00000509374.1:p.Ala445ProfsTer8
ENST00000692825.1:c.1418del	ENSP00000509447.1:n.1418del
ENST00000693308.1:c.1398del	ENSP00000509770.1:p.Ala467ProfsTer8
ENST00000693763.1:n.2510del
ENST00000245407.8:c.1350del MANE Select	ENSP00000245407.3:p.Ala451ProfsTer8
ENST00000245407.7:c.1350del	ENSP00000245407.3:p.Ala451ProfsTer8
ENST00000435065.6:c.1422del	ENSP00000402760.2:p.Ala475ProfsTer8
ENST00000447841.5:c.194del
ENST00000448810.5:c.612del
ENST00000461013.5:n.8772del
ENST00000475308.1:n.2028del
ENST00000479605.5:n.453del
NM_001308122.1:c.1422del	NP_001295051.1:p.Ala475ProfsTer8
NM_003060.3:c.1350del	NP_003051.1:p.Ala451ProfsTer8
XM_011543590.1:c.732del	XP_011541892.1:p.Ala245ProfsTer8
XR_948290.1:n.1476del
XM_011543590.2:c.732del	XP_011541892.1:p.Ala245ProfsTer8
XM_017009778.2:c.822del	XP_016865267.1:p.Ala275ProfsTer8
XR_001742215.1:n.1605del
XR_001742216.1:n.1624del
XR_427718.2:n.1710del
XR_948290.2:n.1476del
XR_948291.2:n.1704del
NM_003060.4:c.1350del MANE Select	NP_003051.1:p.Ala451ProfsTer8
NM_001308122.2:c.1422del	NP_001295051.1:p.Ala475ProfsTer8