Canonical Allele Identifier: CA915949274
Gene: SLC12A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 656763
ClinVar RCV Id: RCV000813262

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.56885987_56887036del , CM000678.2:g.56885987_56887036del GRCh38
NC_000016.9:g.56919899_56920948del , CM000678.1:g.56919899_56920948del GRCh37
NC_000016.8:g.55477400_55478449del NCBI36
NG_009386.1:g.25781_26830del
NG_009386.2:g.25781_26830del

Transcript Alleles

HGVS Amino-acid Change
ENST00000563236.6:c.1926-377_2121del
ENST00000262502.5:c.1923-377_2118del
ENST00000438926.6:c.1926-377_2121del
ENST00000563236.5:c.1926-377_2121del
ENST00000566786.5:c.1923-377_2118del
NM_000339.2:c.1926-377_2121del
NM_001126107.1:c.1923-377_2118del
NM_001126108.1:c.1926-377_2121del
XM_005256119.1:c.1923-377_2118del
XM_005256119.2:c.1923-377_2118del
NM_000339.3:c.1926-377_2121del
NM_001126107.2:c.1923-377_2118del
NM_001126108.2:c.1926-377_2121del