Canonical Allele Identifier: CA1583150256

Gene: SLC22A5

Linked Data

• dbSNP Id: rs1752674584

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132390879_132390881del , CM000667.2:g.132390879_132390881del	GRCh38
NC_000005.9:g.131726571_131726573del , CM000667.1:g.131726571_131726573del	GRCh37
NC_000005.8:g.131754470_131754472del	NCBI36
NG_008982.1:g.26171_26173del
NG_008982.2:g.26176_26178del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000415928.6:c.1083_1085del	ENSP00000388838.2:p.Leu362del
ENST00000435065.7:c.1314_1316del	ENSP00000402760.2:p.Leu439del
ENST00000448810.6:c.*94_*96del	ENSP00000401860.2:n.*94_*96del
ENST00000685543.1:n.1383_1385del
ENST00000686757.1:c.*406_*408del	ENSP00000510721.1:n.*406_*408del
ENST00000687740.1:n.3927_3929del
ENST00000688151.1:n.2552_2554del
ENST00000689271.1:c.1089_1091del	ENSP00000510797.1:p.Leu364del
ENST00000690900.1:c.*406_*408del	ENSP00000510703.1:n.*406_*408del
ENST00000692212.1:n.2854_2856del
ENST00000692355.1:c.495_497del
ENST00000692413.1:c.1224_1226del	ENSP00000509374.1:p.Leu409del
ENST00000692825.1:c.1310_1312del	ENSP00000509447.1:n.1310_1312del
ENST00000693308.1:c.1290_1292del	ENSP00000509770.1:p.Leu431del
ENST00000693763.1:n.2402_2404del
ENST00000245407.8:c.1242_1244del MANE Select	ENSP00000245407.3:p.Leu415del
ENST00000245407.7:c.1242_1244del	ENSP00000245407.3:p.Leu415del
ENST00000435065.6:c.1314_1316del	ENSP00000402760.2:p.Leu439del
ENST00000447841.5:c.112-1554_112-1552del
ENST00000448810.5:c.504_506del
ENST00000461013.5:n.8664_8666del
ENST00000475308.1:n.1920_1922del
ENST00000479605.5:n.345_347del
NM_001308122.1:c.1314_1316del	NP_001295051.1:p.Leu439del
NM_003060.3:c.1242_1244del	NP_003051.1:p.Leu415del
XM_011543590.1:c.624_626del	XP_011541892.1:p.Leu209del
XR_427718.1:n.1602_1604del
XR_948290.1:n.1394-1554_1394-1552del
XR_948291.1:n.1596_1598del
XM_011543590.2:c.624_626del	XP_011541892.1:p.Leu209del
XM_017009778.2:c.714_716del	XP_016865267.1:p.Leu239del
XR_001742215.1:n.1497_1499del
XR_001742216.1:n.1516_1518del
XR_427718.2:n.1602_1604del
XR_948290.2:n.1394-1554_1394-1552del
XR_948291.2:n.1596_1598del
NM_003060.4:c.1242_1244del MANE Select	NP_003051.1:p.Leu415del
NM_001308122.2:c.1314_1316del	NP_001295051.1:p.Leu439del