Canonical Allele Identifier: CA2695197281

Gene: SLC12A1

Linked Data

• ClinVar Variation Id: 2633820
• ClinVar RCV Id: RCV003400290

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48229264_48229278del , CM000677.2:g.48229264_48229278del	GRCh38
NC_000015.9:g.48521461_48521475del , CM000677.1:g.48521461_48521475del	GRCh37
NC_000015.8:g.46308753_46308767del	NCBI36
NG_021301.1:g.27964_27978del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000686073.1:c.800_814del	ENSP00000508901.1:p.Ala267_Ala271del
ENST00000380993.8:c.800_814del MANE Select	ENSP00000370381.3:p.Ala267_Ala271del
ENST00000646012.1:c.938_952del	ENSP00000495813.1:p.Ala313_Ala317del
ENST00000647232.1:c.800_814del	ENSP00000493875.1:p.Ala267_Ala271del
ENST00000647546.1:c.800_814del	ENSP00000495332.1:p.Ala267_Ala271del
ENST00000330289.10:c.800_814del	ENSP00000331550.6:p.Ala267_Ala271del
ENST00000380993.7:c.800_814del	ENSP00000370381.3:p.Ala267_Ala271del
ENST00000396577.7:c.800_814del	ENSP00000379822.3:p.Ala267_Ala271del
ENST00000558252.5:n.4923_4937del
ENST00000558405.5:c.800_814del	ENSP00000453409.1:p.Ala267_Ala271del
ENST00000559641.5:c.239_253del	ENSP00000453230.1:p.Ala80_Ala84del
ENST00000559723.2:n.173_187del
ENST00000560692.5:n.4939_4953del
ENST00000561127.5:c.239_253del	ENSP00000453602.2:p.Ala80_Ala84del
NM_000338.2:c.800_814del	NP_000329.2:p.Ala267_Ala271del
NM_001184832.1:c.800_814del	NP_001171761.1:p.Ala267_Ala271del
XM_005254605.1:c.896_910del	XP_005254662.1:p.Ala299_Ala303del
XM_005254606.1:c.800_814del	XP_005254663.1:p.Ala267_Ala271del
XM_006720656.1:c.896_910del	XP_006720719.1:p.Ala299_Ala303del
XR_931896.1:n.1112_1126del
XR_932203.1:n.229+680_229+694del
XR_932204.1:n.222+680_222+694del
XM_005254606.2:c.800_814del	XP_005254663.1:p.Ala267_Ala271del
XR_001751524.2:n.230+680_230+694del
XR_001751525.1:n.230+680_230+694del
XR_002957762.1:n.230+680_230+694del
XR_932204.3:n.224+680_224+694del
NM_000338.3:c.800_814del MANE Select	NP_000329.2:p.Ala267_Ala271del
NM_001184832.2:c.800_814del	NP_001171761.1:p.Ala267_Ala271del
NM_001384136.1:c.800_814del	NP_001371065.1:p.Ala267_Ala271del