Canonical Allele Identifier: CA919548311

Gene: SLC12A1

Linked Data

• dbSNP Id: rs1597408697

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48229201_48229204dup , CM000677.2:g.48229201_48229204dup	GRCh38
NC_000015.9:g.48521398_48521401dup , CM000677.1:g.48521398_48521401dup	GRCh37
NC_000015.8:g.46308690_46308693dup	NCBI36
NG_021301.1:g.27901_27904dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000686073.1:c.737_740dup	ENSP00000508901.1:p.Ile248SerfsTer22
ENST00000380993.8:c.737_740dup MANE Select	ENSP00000370381.3:p.Ile248SerfsTer22
ENST00000646012.1:c.875_878dup	ENSP00000495813.1:p.Ile294SerfsTer22
ENST00000647232.1:c.737_740dup	ENSP00000493875.1:p.Ile248SerfsTer22
ENST00000647546.1:c.737_740dup	ENSP00000495332.1:p.Ile248SerfsTer22
ENST00000330289.10:c.737_740dup	ENSP00000331550.6:p.Ile248SerfsTer22
ENST00000380993.7:c.737_740dup	ENSP00000370381.3:p.Ile248SerfsTer22
ENST00000396577.7:c.737_740dup	ENSP00000379822.3:p.Ile248SerfsTer22
ENST00000558252.5:n.4860_4863dup
ENST00000558405.5:c.737_740dup	ENSP00000453409.1:p.Ile248SerfsTer22
ENST00000559641.5:c.176_179dup	ENSP00000453230.1:p.Ile61SerfsTer22
ENST00000559723.2:n.110_113dup
ENST00000560692.5:n.4876_4879dup
ENST00000561127.5:c.176_179dup	ENSP00000453602.2:p.Ile61SerfsTer22
NM_000338.2:c.737_740dup	NP_000329.2:p.Ile248SerfsTer22
NM_001184832.1:c.737_740dup	NP_001171761.1:p.Ile248SerfsTer22
XM_005254605.1:c.833_836dup	XP_005254662.1:p.Ile280SerfsTer22
XM_005254606.1:c.737_740dup	XP_005254663.1:p.Ile248SerfsTer22
XM_006720656.1:c.833_836dup	XP_006720719.1:p.Ile280SerfsTer22
XR_931896.1:n.1049_1052dup
XR_932203.1:n.229+754_229+757dup
XR_932204.1:n.222+754_222+757dup
XM_005254606.2:c.737_740dup	XP_005254663.1:p.Ile248SerfsTer22
XR_001751524.2:n.230+754_230+757dup
XR_001751525.1:n.230+754_230+757dup
XR_002957762.1:n.230+754_230+757dup
XR_932204.3:n.224+754_224+757dup
NM_000338.3:c.737_740dup MANE Select	NP_000329.2:p.Ile248SerfsTer22
NM_001184832.2:c.737_740dup	NP_001171761.1:p.Ile248SerfsTer22
NM_001384136.1:c.737_740dup	NP_001371065.1:p.Ile248SerfsTer22