Canonical Allele Identifier: CA8069664

Gene: SLC12A3

Linked Data

• ClinVar Variation Id: 2918072
• ClinVar RCV Id: RCV003737939
• dbSNP Id: rs757663793
• ExAC: 16:56920272 T / TCAGCCC
• gnomAD v4: 16-56886360-T-TCAGCCC
• MyVariant Identifiers: chr16:g.56920272_56920273insCAGCCC (hg19) ; chr16:g.56886360_56886361insCAGCCC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56886362_56886367dup , CM000678.2:g.56886362_56886367dup	GRCh38
NC_000016.9:g.56920274_56920279dup , CM000678.1:g.56920274_56920279dup	GRCh37
NC_000016.8:g.55477775_55477780dup	NCBI36
NG_009386.1:g.26156_26161dup
NG_009386.2:g.26156_26161dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000563236.6:c.1926-2_1929dup
ENST00000262502.5:c.1923-2_1926dup
ENST00000438926.6:c.1926-2_1929dup
ENST00000563236.5:c.1926-2_1929dup
ENST00000566786.5:c.1923-2_1926dup
NM_000339.2:c.1926-2_1929dup
NM_001126107.1:c.1923-2_1926dup
NM_001126108.1:c.1926-2_1929dup
XM_005256119.1:c.1923-2_1926dup
XM_005256119.2:c.1923-2_1926dup
NM_000339.3:c.1926-2_1929dup
NM_001126107.2:c.1923-2_1926dup
NM_001126108.2:c.1926-2_1929dup