Canonical Allele Identifier: CA8069424
Gene: SLC12A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 488595
ClinVar RCV Id: RCV000578467
dbSNP Id: rs759801838
ExAC: 16:56913138 AGGTACT / A
gnomAD v2: 16-56913138-AGGTACT-A
gnomAD v4: 16-56879226-AGGTACT-A
MyVariant Identifiers: chr16:g.56913139_56913144del (hg19) chr16:g.56879227_56879232del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.56879228_56879233del , CM000678.2:g.56879228_56879233del GRCh38
NC_000016.9:g.56913140_56913145del , CM000678.1:g.56913140_56913145del GRCh37
NC_000016.8:g.55470641_55470646del NCBI36
NG_009386.1:g.19022_19027del
NG_009386.2:g.19022_19027del

Transcript Alleles

HGVS Amino-acid Change
ENST00000563236.6:c.1335+1_1335+6del
ENST00000262502.5:c.1332+1_1332+6del
ENST00000438926.6:c.1335+1_1335+6del
ENST00000563236.5:c.1335+1_1335+6del
ENST00000566786.5:c.1332+1_1332+6del
NM_000339.2:c.1335+1_1335+6del
NM_001126107.1:c.1332+1_1332+6del
NM_001126108.1:c.1335+1_1335+6del
XM_005256119.1:c.1332+1_1332+6del
XM_005256119.2:c.1332+1_1332+6del
NM_000339.3:c.1335+1_1335+6del
NM_001126107.2:c.1332+1_1332+6del
NM_001126108.2:c.1335+1_1335+6del
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