Canonical Allele Identifier: CA2695223515

Gene: SLC12A3

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56902432_56902435dup , CM000678.2:g.56902432_56902435dup	GRCh38
NC_000016.9:g.56936344_56936347dup , CM000678.1:g.56936344_56936347dup	GRCh37
NC_000016.8:g.55493845_55493848dup	NCBI36
NG_009386.1:g.42226_42229dup
NG_009386.2:g.42226_42229dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000563236.6:c.2780_2783dup MANE Select	ENSP00000456149.2:p.Thr929GlyfsTer17
ENST00000262502.5:c.2777_2780dup	ENSP00000262502.5:p.Thr928GlyfsTer17
ENST00000438926.6:c.2807_2810dup	ENSP00000402152.2:p.Thr938GlyfsTer17
ENST00000563236.5:c.2780_2783dup	ENSP00000456149.1:p.Thr929GlyfsTer17
ENST00000566786.5:c.2804_2807dup	ENSP00000457552.1:p.Thr937GlyfsTer17
ENST00000569002.1:n.211_214dup
NM_000339.2:c.2807_2810dup	NP_000330.2:p.Thr938GlyfsTer17
NM_001126107.1:c.2804_2807dup	NP_001119579.1:p.Thr937GlyfsTer17
NM_001126108.1:c.2780_2783dup	NP_001119580.1:p.Thr929GlyfsTer17
XM_005256119.1:c.2777_2780dup	XP_005256176.1:p.Thr928GlyfsTer17
XM_005256119.2:c.2777_2780dup	XP_005256176.1:p.Thr928GlyfsTer17
NM_000339.3:c.2807_2810dup	NP_000330.3:p.Thr938GlyfsTer17
NM_001126107.2:c.2804_2807dup	NP_001119579.2:p.Thr937GlyfsTer17
NM_001126108.2:c.2780_2783dup MANE Select	NP_001119580.2:p.Thr929GlyfsTer17