Canonical Allele Identifier: CA2697549045

Gene: SLC12A1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48251708_48251718del , CM000677.2:g.48251708_48251718del	GRCh38
NC_000015.9:g.48543905_48543915del , CM000677.1:g.48543905_48543915del	GRCh37
NC_000015.8:g.46331197_46331207del	NCBI36
NG_021301.1:g.50408_50418del

Transcript Alleles

HGVS	Amino-acid Change
NM_000338.3:c.1880_1890del MANE Select	NP_000329.2:p.Ala627AspfsTer5
ENST00000380993.8:c.1880_1890del MANE Select	ENSP00000370381.3:p.Ala627AspfsTer5
NM_000338.2:c.1880_1890del	NP_000329.2:p.Ala627AspfsTer5
NM_001184832.1:c.1880_1890del	NP_001171761.1:p.Ala627AspfsTer5
NM_001184832.2:c.1880_1890del	NP_001171761.1:p.Ala627AspfsTer5
NM_001384136.1:c.1880_1890del	NP_001371065.1:p.Ala627AspfsTer5
ENST00000380993.7:c.1880_1890del	ENSP00000370381.3:p.Ala627AspfsTer5
ENST00000396577.7:c.1880_1890del	ENSP00000379822.3:p.Ala627AspfsTer5
ENST00000558252.5:n.6003_6013del
ENST00000558405.5:c.1880_1890del	ENSP00000453409.1:p.Ala627AspfsTer5
ENST00000559641.5:c.1319_1329del	ENSP00000453230.1:p.Ala440AspfsTer5
ENST00000560692.5:n.6019_6029del
ENST00000646012.1:c.2018_2028del	ENSP00000495813.1:p.Ala673AspfsTer5
ENST00000647232.1:c.1880_1890del	ENSP00000493875.1:p.Ala627AspfsTer5
ENST00000647546.1:c.1880_1890del	ENSP00000495332.1:p.Ala627AspfsTer5
ENST00000686073.1:c.1880_1890del	ENSP00000508901.1:p.Ala627AspfsTer5
XM_005254605.1:c.1976_1986del	XP_005254662.1:p.Ala659AspfsTer5
XM_005254606.1:c.1880_1890del	XP_005254663.1:p.Ala627AspfsTer5
XM_005254606.2:c.1880_1890del	XP_005254663.1:p.Ala627AspfsTer5
XM_006720656.1:c.1976_1986del	XP_006720719.1:p.Ala659AspfsTer5
XR_931896.1:n.2192_2202del