Canonical Allele Identifier: CA2175394325
Gene: SLC12A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48229309_48229311delinsCTG , CM000677.2:g.48229309_48229311delinsCTG GRCh38
NC_000015.9:g.48521506_48521508delinsCTG , CM000677.1:g.48521506_48521508delinsCTG GRCh37
NC_000015.8:g.46308798_46308800delinsCTG NCBI36
NG_021301.1:g.28009_28011delinsCTG

Transcript Alleles

HGVS Amino-acid change
ENST00000686073.1:c.845_847delinsCTG ENSP00000508901.1:p.Thr282=
ENST00000380993.8:c.845_847delinsCTG MANE Select ENSP00000370381.3:p.Thr282=
ENST00000646012.1:c.983_985delinsCTG ENSP00000495813.1:p.Thr328=
ENST00000647232.1:c.845_847delinsCTG ENSP00000493875.1:p.Thr282=
ENST00000647546.1:c.845_847delinsCTG ENSP00000495332.1:p.Thr282=
ENST00000330289.10:c.845_847delinsCTG ENSP00000331550.6:p.Thr282=
ENST00000380993.7:c.845_847delinsCTG ENSP00000370381.3:p.Thr282=
ENST00000396577.7:c.845_847delinsCTG ENSP00000379822.3:p.Thr282=
ENST00000558252.5:n.4968_4970delinsCTG
ENST00000558405.5:c.845_847delinsCTG ENSP00000453409.1:p.Thr282=
ENST00000559641.5:c.284_286delinsCTG ENSP00000453230.1:p.Thr95=
ENST00000559723.2:n.218_220delinsCTG
ENST00000560692.5:n.4984_4986delinsCTG
ENST00000561127.5:c.284_286delinsCTG ENSP00000453602.2:p.Thr95=
NM_000338.2:c.845_847delinsCTG NP_000329.2:p.Thr282=
NM_001184832.1:c.845_847delinsCTG NP_001171761.1:p.Thr282=
XM_005254605.1:c.941_943delinsCTG XP_005254662.1:p.Thr314=
XM_005254606.1:c.845_847delinsCTG XP_005254663.1:p.Thr282=
XM_006720656.1:c.941_943delinsCTG XP_006720719.1:p.Thr314=
XR_931896.1:n.1157_1159delinsCTG
XR_932203.1:n.229+645_229+647delinsCAG
XR_932204.1:n.222+645_222+647delinsCAG
XM_005254606.2:c.845_847delinsCTG XP_005254663.1:p.Thr282=
XR_001751524.2:n.230+645_230+647delinsCAG
XR_001751525.1:n.230+645_230+647delinsCAG
XR_002957762.1:n.230+645_230+647delinsCAG
XR_932204.3:n.224+645_224+647delinsCAG
NM_000338.3:c.845_847delinsCTG MANE Select NP_000329.2:p.Thr282=
NM_001184832.2:c.845_847delinsCTG NP_001171761.1:p.Thr282=
NM_001384136.1:c.845_847delinsCTG NP_001371065.1:p.Thr282=