Canonical Allele Identifier: CA2695205162

Gene: SLC22A5

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132385495_132385496del , CM000667.2:g.132385495_132385496del	GRCh38
NC_000005.9:g.131721187_131721188del , CM000667.1:g.131721187_131721188del	GRCh37
NC_000005.8:g.131749086_131749087del	NCBI36
NG_008982.1:g.20787_20788del
NG_008982.2:g.20792_20793del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000415928.6:c.665+1181_665+1182del	ENSP00000388838.2:n.665+1181_665+1182del
ENST00000435065.7:c.892_893del	ENSP00000402760.2:p.Trp298ValfsTer5
ENST00000448810.6:c.820_821del	ENSP00000401860.2:p.Trp274ValfsTer5
ENST00000686757.1:c.839_840del	ENSP00000510721.1:p.Leu280ArgfsTer22
ENST00000687740.1:n.1980_1981del
ENST00000688151.1:n.2012_2013del
ENST00000689271.1:c.671+1175_671+1176del	ENSP00000510797.1:n.671+1175_671+1176del
ENST00000690900.1:c.791_792del	ENSP00000510703.1:p.Leu264ArgfsTer22
ENST00000692212.1:n.646_647del
ENST00000692355.1:c.204+1194_204+1195del
ENST00000692413.1:c.839_840del	ENSP00000509374.1:p.Leu280ArgfsTer5
ENST00000692825.1:c.888_889del	ENSP00000509447.1:n.888_889del
ENST00000693308.1:c.833_834del	ENSP00000509770.1:p.Leu278ArgfsTer6
ENST00000693763.1:n.1980_1981del
ENST00000245407.8:c.820_821del MANE Select	ENSP00000245407.3:p.Trp274ValfsTer5
ENST00000245407.7:c.820_821del	ENSP00000245407.3:p.Trp274ValfsTer5
ENST00000415928.5:c.589_590del	ENSP00000388838.1:p.Trp197ValfsTer5
ENST00000435065.6:c.892_893del	ENSP00000402760.2:p.Trp298ValfsTer5
ENST00000437841.6:c.*135_*136del	ENSP00000400553.1:n.*135_*136del
ENST00000448810.5:c.168_169del
ENST00000461013.5:n.8242_8243del
NM_001308122.1:c.892_893del	NP_001295051.1:p.Trp298ValfsTer5
NM_003060.3:c.820_821del	NP_003051.1:p.Trp274ValfsTer5
XM_011543590.1:c.202_203del	XP_011541892.1:p.Trp68ValfsTer5
XR_427718.1:n.1180_1181del
XR_948290.1:n.1161_1162del
XR_948291.1:n.1174_1175del
XM_011543590.2:c.202_203del	XP_011541892.1:p.Trp68ValfsTer5
XM_017009778.2:c.292_293del	XP_016865267.1:p.Trp98ValfsTer5
XR_001742215.1:n.1161_1162del
XR_001742216.1:n.1180_1181del
XR_427718.2:n.1180_1181del
XR_948290.2:n.1161_1162del
XR_948291.2:n.1174_1175del
NM_003060.4:c.820_821del MANE Select	NP_003051.1:p.Trp274ValfsTer5
NM_001308122.2:c.892_893del	NP_001295051.1:p.Trp298ValfsTer5