Canonical Allele Identifier: CA2175394280

Gene: SLC12A1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48229290_48229291delinsGT , CM000677.2:g.48229290_48229291delinsGT	GRCh38
NC_000015.9:g.48521487_48521488delinsGT , CM000677.1:g.48521487_48521488delinsGT	GRCh37
NC_000015.8:g.46308779_46308780delinsGT	NCBI36
NG_021301.1:g.27990_27991delinsGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000686073.1:c.826_827delinsGT	ENSP00000508901.1:p.Val276=
ENST00000380993.8:c.826_827delinsGT MANE Select	ENSP00000370381.3:p.Val276=
ENST00000646012.1:c.964_965delinsGT	ENSP00000495813.1:p.Val322=
ENST00000647232.1:c.826_827delinsGT	ENSP00000493875.1:p.Val276=
ENST00000647546.1:c.826_827delinsGT	ENSP00000495332.1:p.Val276=
ENST00000330289.10:c.826_827delinsGT	ENSP00000331550.6:p.Val276=
ENST00000380993.7:c.826_827delinsGT	ENSP00000370381.3:p.Val276=
ENST00000396577.7:c.826_827delinsGT	ENSP00000379822.3:p.Val276=
ENST00000558252.5:n.4949_4950delinsGT
ENST00000558405.5:c.826_827delinsGT	ENSP00000453409.1:p.Val276=
ENST00000559641.5:c.265_266delinsGT	ENSP00000453230.1:p.Val89=
ENST00000559723.2:n.199_200delinsGT
ENST00000560692.5:n.4965_4966delinsGT
ENST00000561127.5:c.265_266delinsGT	ENSP00000453602.2:p.Val89=
NM_000338.2:c.826_827delinsGT	NP_000329.2:p.Val276=
NM_001184832.1:c.826_827delinsGT	NP_001171761.1:p.Val276=
XM_005254605.1:c.922_923delinsGT	XP_005254662.1:p.Val308=
XM_005254606.1:c.826_827delinsGT	XP_005254663.1:p.Val276=
XM_006720656.1:c.922_923delinsGT	XP_006720719.1:p.Val308=
XR_931896.1:n.1138_1139delinsGT
XR_932203.1:n.229+665_229+666delinsAC
XR_932204.1:n.222+665_222+666delinsAC
XM_005254606.2:c.826_827delinsGT	XP_005254663.1:p.Val276=
XR_001751524.2:n.230+665_230+666delinsAC
XR_001751525.1:n.230+665_230+666delinsAC
XR_002957762.1:n.230+665_230+666delinsAC
XR_932204.3:n.224+665_224+666delinsAC
NM_000338.3:c.826_827delinsGT MANE Select	NP_000329.2:p.Val276=
NM_001184832.2:c.826_827delinsGT	NP_001171761.1:p.Val276=
NM_001384136.1:c.826_827delinsGT	NP_001371065.1:p.Val276=