Canonical Allele Identifier: CA658657490

Gene: SLC22A5

Linked Data

• ClinVar Variation Id: 460413
• ClinVar RCV Id: RCV000545553
• dbSNP Id: rs1554087491
• MyVariant Identifiers: chr5:g.131721122del (hg19) ; chr5:g.132385430del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132385430del , CM000667.2:g.132385430del	GRCh38
NC_000005.9:g.131721122del , CM000667.1:g.131721122del	GRCh37
NC_000005.8:g.131749021del	NCBI36
NG_008982.1:g.20722del
NG_008982.2:g.20727del

Transcript Alleles

HGVS	Amino-acid change
ENST00000415928.6:c.665+1116del	ENSP00000388838.2:n.665+1116del
ENST00000435065.7:c.827del	ENSP00000402760.2:p.Phe276SerfsTer12
ENST00000448810.6:c.755del	ENSP00000401860.2:p.Phe252SerfsTer12
ENST00000686757.1:c.774del	ENSP00000510721.1:p.His259IlefsTer?
ENST00000687740.1:n.1915del
ENST00000688151.1:n.1947del
ENST00000689271.1:c.671+1110del	ENSP00000510797.1:n.671+1110del
ENST00000690900.1:c.726del	ENSP00000510703.1:p.His243IlefsTer?
ENST00000692212.1:n.581del
ENST00000692355.1:c.204+1129del
ENST00000692413.1:c.774del	ENSP00000509374.1:p.His259IlefsTer?
ENST00000692825.1:c.823del	ENSP00000509447.1:n.823del
ENST00000693308.1:c.768del	ENSP00000509770.1:p.His257IlefsTer?
ENST00000693763.1:n.1915del
ENST00000245407.8:c.755del MANE Select	ENSP00000245407.3:p.Phe252SerfsTer12
ENST00000245407.7:c.755del	ENSP00000245407.3:p.Phe252SerfsTer12
ENST00000415928.5:c.524del	ENSP00000388838.1:p.Phe175SerfsTer12
ENST00000435065.6:c.827del	ENSP00000402760.2:p.Phe276SerfsTer12
ENST00000437841.6:c.*70del	ENSP00000400553.1:n.*70del
ENST00000448810.5:c.103del
ENST00000461013.5:n.8177del
NM_001308122.1:c.827del	NP_001295051.1:p.Phe276SerfsTer12
NM_003060.3:c.755del	NP_003051.1:p.Phe252SerfsTer12
XM_011543590.1:c.137del	XP_011541892.1:p.Phe46SerfsTer12
XR_427718.1:n.1115del
XR_948290.1:n.1096del
XR_948291.1:n.1109del
XM_011543590.2:c.137del	XP_011541892.1:p.Phe46SerfsTer12
XM_017009778.2:c.227del	XP_016865267.1:p.Phe76SerfsTer12
XR_001742215.1:n.1096del
XR_001742216.1:n.1115del
XR_427718.2:n.1115del
XR_948290.2:n.1096del
XR_948291.2:n.1109del
NM_003060.4:c.755del MANE Select	NP_003051.1:p.Phe252SerfsTer12
NM_001308122.2:c.827del	NP_001295051.1:p.Phe276SerfsTer12