Canonical Allele Identifier: CA2224357210

Gene: SLC12A3

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56886402_56886403delinsGC , CM000678.2:g.56886402_56886403delinsGC	GRCh38
NC_000016.9:g.56920314_56920315delinsGC , CM000678.1:g.56920314_56920315delinsGC	GRCh37
NC_000016.8:g.55477815_55477816delinsGC	NCBI36
NG_009386.1:g.26196_26197delinsGC
NG_009386.2:g.26196_26197delinsGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000563236.6:c.1964_1965delinsGC MANE Select	ENSP00000456149.2:p.Arg655=
ENST00000262502.5:c.1961_1962delinsGC	ENSP00000262502.5:p.Arg654=
ENST00000438926.6:c.1964_1965delinsGC	ENSP00000402152.2:p.Arg655=
ENST00000563236.5:c.1964_1965delinsGC	ENSP00000456149.1:p.Arg655=
ENST00000566786.5:c.1961_1962delinsGC	ENSP00000457552.1:p.Arg654=
NM_000339.2:c.1964_1965delinsGC	NP_000330.2:p.Arg655=
NM_001126107.1:c.1961_1962delinsGC	NP_001119579.1:p.Arg654=
NM_001126108.1:c.1964_1965delinsGC	NP_001119580.1:p.Arg655=
XM_005256119.1:c.1961_1962delinsGC	XP_005256176.1:p.Arg654=
XM_005256119.2:c.1961_1962delinsGC	XP_005256176.1:p.Arg654=
NM_000339.3:c.1964_1965delinsGC	NP_000330.3:p.Arg655=
NM_001126107.2:c.1961_1962delinsGC	NP_001119579.2:p.Arg654=
NM_001126108.2:c.1964_1965delinsGC MANE Select	NP_001119580.2:p.Arg655=