Canonical Allele Identifier: CA2175394374
Gene: SLC12A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48229326_48229328delinsAAG , CM000677.2:g.48229326_48229328delinsAAG GRCh38
NC_000015.9:g.48521523_48521525delinsAAG , CM000677.1:g.48521523_48521525delinsAAG GRCh37
NC_000015.8:g.46308815_46308817delinsAAG NCBI36
NG_021301.1:g.28026_28028delinsAAG

Transcript Alleles

HGVS Amino-acid change
ENST00000686073.1:c.862_864delinsAAG ENSP00000508901.1:p.Lys288=
ENST00000380993.8:c.862_864delinsAAG MANE Select ENSP00000370381.3:p.Lys288=
ENST00000646012.1:c.1000_1002delinsAAG ENSP00000495813.1:p.Lys334=
ENST00000647232.1:c.862_864delinsAAG ENSP00000493875.1:p.Lys288=
ENST00000647546.1:c.862_864delinsAAG ENSP00000495332.1:p.Lys288=
ENST00000330289.10:c.862_864delinsAAG ENSP00000331550.6:p.Lys288=
ENST00000380993.7:c.862_864delinsAAG ENSP00000370381.3:p.Lys288=
ENST00000396577.7:c.862_864delinsAAG ENSP00000379822.3:p.Lys288=
ENST00000558252.5:n.4985_4987delinsAAG
ENST00000558405.5:c.862_864delinsAAG ENSP00000453409.1:p.Lys288=
ENST00000559641.5:c.301_303delinsAAG ENSP00000453230.1:p.Lys101=
ENST00000559723.2:n.235_237delinsAAG
ENST00000560692.5:n.5001_5003delinsAAG
ENST00000561127.5:c.301_303delinsAAG ENSP00000453602.2:p.Lys101=
NM_000338.2:c.862_864delinsAAG NP_000329.2:p.Lys288=
NM_001184832.1:c.862_864delinsAAG NP_001171761.1:p.Lys288=
XM_005254605.1:c.958_960delinsAAG XP_005254662.1:p.Lys320=
XM_005254606.1:c.862_864delinsAAG XP_005254663.1:p.Lys288=
XM_006720656.1:c.958_960delinsAAG XP_006720719.1:p.Lys320=
XR_931896.1:n.1174_1176delinsAAG
XR_932203.1:n.229+628_229+630delinsCTT
XR_932204.1:n.222+628_222+630delinsCTT
XM_005254606.2:c.862_864delinsAAG XP_005254663.1:p.Lys288=
XR_001751524.2:n.230+628_230+630delinsCTT
XR_001751525.1:n.230+628_230+630delinsCTT
XR_002957762.1:n.230+628_230+630delinsCTT
XR_932204.3:n.224+628_224+630delinsCTT
NM_000338.3:c.862_864delinsAAG MANE Select NP_000329.2:p.Lys288=
NM_001184832.2:c.862_864delinsAAG NP_001171761.1:p.Lys288=
NM_001384136.1:c.862_864delinsAAG NP_001371065.1:p.Lys288=