Canonical Allele Identifier: CA2224357193

Gene: SLC12A3

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56886375_56886376delinsTG , CM000678.2:g.56886375_56886376delinsTG	GRCh38
NC_000016.9:g.56920287_56920288delinsTG , CM000678.1:g.56920287_56920288delinsTG	GRCh37
NC_000016.8:g.55477788_55477789delinsTG	NCBI36
NG_009386.1:g.26169_26170delinsTG
NG_009386.2:g.26169_26170delinsTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000563236.6:c.1937_1938delinsTG MANE Select	ENSP00000456149.2:p.Leu646=
ENST00000262502.5:c.1934_1935delinsTG	ENSP00000262502.5:p.Leu645=
ENST00000438926.6:c.1937_1938delinsTG	ENSP00000402152.2:p.Leu646=
ENST00000563236.5:c.1937_1938delinsTG	ENSP00000456149.1:p.Leu646=
ENST00000566786.5:c.1934_1935delinsTG	ENSP00000457552.1:p.Leu645=
NM_000339.2:c.1937_1938delinsTG	NP_000330.2:p.Leu646=
NM_001126107.1:c.1934_1935delinsTG	NP_001119579.1:p.Leu645=
NM_001126108.1:c.1937_1938delinsTG	NP_001119580.1:p.Leu646=
XM_005256119.1:c.1934_1935delinsTG	XP_005256176.1:p.Leu645=
XM_005256119.2:c.1934_1935delinsTG	XP_005256176.1:p.Leu645=
NM_000339.3:c.1937_1938delinsTG	NP_000330.3:p.Leu646=
NM_001126107.2:c.1934_1935delinsTG	NP_001119579.2:p.Leu645=
NM_001126108.2:c.1937_1938delinsTG MANE Select	NP_001119580.2:p.Leu646=