Canonical Allele Identifier: CA2837994807

Gene: SLC22A5

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132387045del , CM000667.2:g.132387045del	GRCh38
NC_000005.9:g.131722737del , CM000667.1:g.131722737del	GRCh37
NC_000005.8:g.131750636del	NCBI36
NG_008982.1:g.22337del
NG_008982.2:g.22342del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000415928.6:c.686del	ENSP00000388838.2:p.Arg229HisfsTer14
ENST00000435065.7:c.917del	ENSP00000402760.2:p.Arg306HisfsTer14
ENST00000448810.6:c.845del	ENSP00000401860.2:p.Arg282HisfsTer14
ENST00000686757.1:c.*9del	ENSP00000510721.1:n.*9del
ENST00000687740.1:n.3530del
ENST00000688151.1:n.2155del
ENST00000689271.1:c.692del	ENSP00000510797.1:p.Arg231HisfsTer14
ENST00000690900.1:c.*9del	ENSP00000510703.1:n.*9del
ENST00000692212.1:n.789del
ENST00000692355.1:c.205-1876del
ENST00000692413.1:c.844-17del	ENSP00000509374.1:n.844-17del
ENST00000692825.1:c.913del	ENSP00000509447.1:n.913del
ENST00000693308.1:c.893del	ENSP00000509770.1:p.Arg298HisfsTer14
ENST00000693763.1:n.2005del
ENST00000245407.8:c.845del MANE Select	ENSP00000245407.3:p.Arg282HisfsTer14
ENST00000245407.7:c.845del	ENSP00000245407.3:p.Arg282HisfsTer14
ENST00000415928.5:c.614del	ENSP00000388838.1:p.Arg205HisfsTer14
ENST00000435065.6:c.917del	ENSP00000402760.2:p.Arg306HisfsTer14
ENST00000437841.6:c.*160del	ENSP00000400553.1:n.*160del
ENST00000448810.5:c.193del
ENST00000461013.5:n.8267del
NM_001308122.1:c.917del	NP_001295051.1:p.Arg306HisfsTer14
NM_003060.3:c.845del	NP_003051.1:p.Arg282HisfsTer14
XM_011543590.1:c.227del	XP_011541892.1:p.Arg76HisfsTer14
XR_427718.1:n.1205del
XR_948290.1:n.1186del
XR_948291.1:n.1199del
XM_011543590.2:c.227del	XP_011541892.1:p.Arg76HisfsTer14
XM_017009778.2:c.317del	XP_016865267.1:p.Arg106HisfsTer14
XR_001742215.1:n.1186del
XR_001742216.1:n.1205del
XR_427718.2:n.1205del
XR_948290.2:n.1186del
XR_948291.2:n.1199del
NM_003060.4:c.845del MANE Select	NP_003051.1:p.Arg282HisfsTer14
NM_001308122.2:c.917del	NP_001295051.1:p.Arg306HisfsTer14