Canonical Allele Identifier: CA2224349115

Gene: SLC12A3

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56869817_56869819delinsCAA , CM000678.2:g.56869817_56869819delinsCAA	GRCh38
NC_000016.9:g.56903729_56903731delinsCAA , CM000678.1:g.56903729_56903731delinsCAA	GRCh37
NC_000016.8:g.55461230_55461232delinsCAA	NCBI36
NG_009386.1:g.9611_9613delinsCAA
NG_009386.2:g.9611_9613delinsCAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000563236.6:c.594_596delinsCAA MANE Select	ENSP00000456149.2:p.Val198=
ENST00000262502.5:c.591_593delinsCAA	ENSP00000262502.5:p.Val197=
ENST00000438926.6:c.594_596delinsCAA	ENSP00000402152.2:p.Val198=
ENST00000563236.5:c.594_596delinsCAA	ENSP00000456149.1:p.Val198=
ENST00000566786.5:c.591_593delinsCAA	ENSP00000457552.1:p.Val197=
NM_000339.2:c.594_596delinsCAA	NP_000330.2:p.Val198=
NM_001126107.1:c.591_593delinsCAA	NP_001119579.1:p.Val197=
NM_001126108.1:c.594_596delinsCAA	NP_001119580.1:p.Val198=
XM_005256119.1:c.591_593delinsCAA	XP_005256176.1:p.Val197=
XM_005256119.2:c.591_593delinsCAA	XP_005256176.1:p.Val197=
NM_000339.3:c.594_596delinsCAA	NP_000330.3:p.Val198=
NM_001126107.2:c.591_593delinsCAA	NP_001119579.2:p.Val197=
NM_001126108.2:c.594_596delinsCAA MANE Select	NP_001119580.2:p.Val198=