Canonical Allele Identifier: CA16620215
Gene: SLC12A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 419448
ClinVar RCV Id: RCV000478305
dbSNP Id: rs1064793879
MyVariant Identifiers: chr16:g.56912019del (hg19) chr16:g.56878107del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.56878107del , CM000678.2:g.56878107del GRCh38
NC_000016.9:g.56912019del , CM000678.1:g.56912019del GRCh37
NC_000016.8:g.55469520del NCBI36
NG_009386.1:g.17901del
NG_009386.2:g.17901del

Transcript Alleles

HGVS Amino-acid change
ENST00000563236.6:c.1126del MANE Select ENSP00000456149.2:p.Leu376SerfsTer30
ENST00000262502.5:c.1123del ENSP00000262502.5:p.Leu375SerfsTer30
ENST00000438926.6:c.1126del ENSP00000402152.2:p.Leu376SerfsTer30
ENST00000563236.5:c.1126del ENSP00000456149.1:p.Leu376SerfsTer30
ENST00000566786.5:c.1123del ENSP00000457552.1:p.Leu375SerfsTer30
NM_000339.2:c.1126del NP_000330.2:p.Leu376SerfsTer30
NM_001126107.1:c.1123del NP_001119579.1:p.Leu375SerfsTer30
NM_001126108.1:c.1126del NP_001119580.1:p.Leu376SerfsTer30
XM_005256119.1:c.1123del XP_005256176.1:p.Leu375SerfsTer30
XM_005256119.2:c.1123del XP_005256176.1:p.Leu375SerfsTer30
NM_000339.3:c.1126del NP_000330.3:p.Leu376SerfsTer30
NM_001126107.2:c.1123del NP_001119579.2:p.Leu375SerfsTer30
NM_001126108.2:c.1126del MANE Select NP_001119580.2:p.Leu376SerfsTer30
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