Canonical Allele Identifier: CA915943455

Gene: SLC22A5

Linked Data

• ClinVar Variation Id: 646659
• ClinVar RCV Id: RCV000800994
• dbSNP Id: rs1580892228

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132390717_132390718delinsTA , CM000667.2:g.132390717_132390718delinsTA	GRCh38
NC_000005.9:g.131726409_131726410delinsTA , CM000667.1:g.131726409_131726410delinsTA	GRCh37
NC_000005.8:g.131754308_131754309delinsTA	NCBI36
NG_008982.1:g.26009_26010delinsTA
NG_008982.2:g.26014_26015delinsTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000415928.6:c.921_922delinsTA	ENSP00000388838.2:p.Leu308Ile
ENST00000435065.7:c.1152_1153delinsTA	ENSP00000402760.2:p.Leu385Ile
ENST00000448810.6:c.1053-59_1053-58delinsTA	ENSP00000401860.2:n.1053-59_1053-58delinsTA
ENST00000685543.1:n.1221_1222delinsTA
ENST00000686757.1:c.*244_*245delinsTA	ENSP00000510721.1:n.*244_*245delinsTA
ENST00000687740.1:n.3765_3766delinsTA
ENST00000688151.1:n.2390_2391delinsTA
ENST00000689271.1:c.927_928delinsTA	ENSP00000510797.1:p.Leu310Ile
ENST00000690900.1:c.*244_*245delinsTA	ENSP00000510703.1:n.*244_*245delinsTA
ENST00000692212.1:n.2692_2693delinsTA
ENST00000692355.1:c.333_334delinsTA
ENST00000692413.1:c.1062_1063delinsTA	ENSP00000509374.1:p.Leu355Ile
ENST00000692825.1:c.1148_1149delinsTA	ENSP00000509447.1:n.1148_1149delinsTA
ENST00000693308.1:c.1128_1129delinsTA	ENSP00000509770.1:p.Leu377Ile
ENST00000693763.1:n.2240_2241delinsTA
ENST00000245407.8:c.1080_1081delinsTA MANE Select	ENSP00000245407.3:p.Leu361Ile
ENST00000245407.7:c.1080_1081delinsTA	ENSP00000245407.3:p.Leu361Ile
ENST00000435065.6:c.1152_1153delinsTA	ENSP00000402760.2:p.Leu385Ile
ENST00000447841.5:c.111+1696_111+1697delinsTA
ENST00000448810.5:c.401-59_401-58delinsTA
ENST00000461013.5:n.8502_8503delinsTA
ENST00000475308.1:n.1758_1759delinsTA
ENST00000479605.5:n.183_184delinsTA
NM_001308122.1:c.1152_1153delinsTA	NP_001295051.1:p.Leu385Ile
NM_003060.3:c.1080_1081delinsTA	NP_003051.1:p.Leu361Ile
XM_011543590.1:c.462_463delinsTA	XP_011541892.1:p.Leu155Ile
XR_427718.1:n.1440_1441delinsTA
XR_948290.1:n.1393+1696_1393+1697delinsTA
XR_948291.1:n.1434_1435delinsTA
XM_011543590.2:c.462_463delinsTA	XP_011541892.1:p.Leu155Ile
XM_017009778.2:c.552_553delinsTA	XP_016865267.1:p.Leu185Ile
XR_001742215.1:n.1394-59_1394-58delinsTA
XR_001742216.1:n.1413-59_1413-58delinsTA
XR_427718.2:n.1440_1441delinsTA
XR_948290.2:n.1393+1696_1393+1697delinsTA
XR_948291.2:n.1434_1435delinsTA
NM_003060.4:c.1080_1081delinsTA MANE Select	NP_003051.1:p.Leu361Ile
NM_001308122.2:c.1152_1153delinsTA	NP_001295051.1:p.Leu385Ile