Canonical Allele Identifier: CA617822479

Gene: SLC12A1

Linked Data

• dbSNP Id: rs1441073167
• gnomAD v2: 15-48521523-AAG-A
• MyVariant Identifiers: chr15:g.48521524_48521525del (hg19) ; chr15:g.48229327_48229328del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48229327_48229328del , CM000677.2:g.48229327_48229328del	GRCh38
NC_000015.9:g.48521524_48521525del , CM000677.1:g.48521524_48521525del	GRCh37
NC_000015.8:g.46308816_46308817del	NCBI36
NG_021301.1:g.28027_28028del

Transcript Alleles

HGVS	Amino-acid change
ENST00000686073.1:c.863_864del	ENSP00000508901.1:p.Lys288ArgfsTer3
ENST00000380993.8:c.863_864del MANE Select	ENSP00000370381.3:p.Lys288ArgfsTer3
ENST00000646012.1:c.1001_1002del	ENSP00000495813.1:p.Lys334ArgfsTer3
ENST00000647232.1:c.863_864del	ENSP00000493875.1:p.Lys288ArgfsTer3
ENST00000647546.1:c.863_864del	ENSP00000495332.1:p.Lys288ArgfsTer3
ENST00000330289.10:c.863_864del	ENSP00000331550.6:p.Lys288ArgfsTer3
ENST00000380993.7:c.863_864del	ENSP00000370381.3:p.Lys288ArgfsTer3
ENST00000396577.7:c.863_864del	ENSP00000379822.3:p.Lys288ArgfsTer3
ENST00000558252.5:n.4986_4987del
ENST00000558405.5:c.863_864del	ENSP00000453409.1:p.Lys288ArgfsTer3
ENST00000559641.5:c.302_303del	ENSP00000453230.1:p.Lys101ArgfsTer3
ENST00000559723.2:n.236_237del
ENST00000560692.5:n.5002_5003del
ENST00000561127.5:c.302_303del	ENSP00000453602.2:p.Lys101ArgfsTer3
NM_000338.2:c.863_864del	NP_000329.2:p.Lys288ArgfsTer3
NM_001184832.1:c.863_864del	NP_001171761.1:p.Lys288ArgfsTer3
XM_005254605.1:c.959_960del	XP_005254662.1:p.Lys320ArgfsTer3
XM_005254606.1:c.863_864del	XP_005254663.1:p.Lys288ArgfsTer3
XM_006720656.1:c.959_960del	XP_006720719.1:p.Lys320ArgfsTer3
XR_931896.1:n.1175_1176del
XR_932203.1:n.229+628_229+629del
XR_932204.1:n.222+628_222+629del
XM_005254606.2:c.863_864del	XP_005254663.1:p.Lys288ArgfsTer3
XR_001751524.2:n.230+628_230+629del
XR_001751525.1:n.230+628_230+629del
XR_002957762.1:n.230+628_230+629del
XR_932204.3:n.224+628_224+629del
NM_000338.3:c.863_864del MANE Select	NP_000329.2:p.Lys288ArgfsTer3
NM_001184832.2:c.863_864del	NP_001171761.1:p.Lys288ArgfsTer3
NM_001384136.1:c.863_864del	NP_001371065.1:p.Lys288ArgfsTer3