Canonical Allele Identifier: CA7546982

Gene: SLC12A1

Linked Data

• ClinVar Variation Id: 265999
• ClinVar RCV Id: RCV000256407 ; RCV000662326 ; RCV002518773
• dbSNP Id: rs779588655
• ExAC: 15:48527142 AT / A
• gnomAD v2: 15-48527142-AT-A
• gnomAD v4: 15-48234945-AT-A
• MyVariant Identifiers: chr15:g.48527149del (hg19) ; chr15:g.48527143del (hg19) ; chr15:g.48234952del (hg38) ; chr15:g.48234946del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48234952del , CM000677.2:g.48234952del	GRCh38
NC_000015.9:g.48527149del , CM000677.1:g.48527149del	GRCh37
NC_000015.8:g.46314441del	NCBI36
NG_021301.1:g.33652del

Transcript Alleles

HGVS	Amino-acid change
ENST00000686073.1:c.1163del	ENSP00000508901.1:p.Phe388SerfsTer?
ENST00000380993.8:c.1163del MANE Select	ENSP00000370381.3:p.Phe388SerfsTer?
ENST00000646012.1:c.1301del	ENSP00000495813.1:p.Phe434SerfsTer?
ENST00000647232.1:c.1163del	ENSP00000493875.1:p.Phe388SerfsTer?
ENST00000647546.1:c.1163del	ENSP00000495332.1:p.Phe388SerfsTer?
ENST00000330289.10:c.1163del	ENSP00000331550.6:p.Phe388SerfsTer20
ENST00000380993.7:c.1163del	ENSP00000370381.3:p.Phe388SerfsTer?
ENST00000396577.7:c.1163del	ENSP00000379822.3:p.Phe388SerfsTer?
ENST00000558252.5:n.5286del
ENST00000558405.5:c.1163del	ENSP00000453409.1:p.Phe388SerfsTer?
ENST00000558805.1:c.190del
ENST00000559641.5:c.602del	ENSP00000453230.1:p.Phe201SerfsTer?
ENST00000560692.5:n.5302del
NM_000338.2:c.1163del	NP_000329.2:p.Phe388SerfsTer?
NM_001184832.1:c.1163del	NP_001171761.1:p.Phe388SerfsTer?
XM_005254605.1:c.1259del	XP_005254662.1:p.Phe420SerfsTer?
XM_005254606.1:c.1163del	XP_005254663.1:p.Phe388SerfsTer?
XM_006720656.1:c.1259del	XP_006720719.1:p.Phe420SerfsTer?
XR_931896.1:n.1475del
XM_005254606.2:c.1163del	XP_005254663.1:p.Phe388SerfsTer?
NM_000338.3:c.1163del MANE Select	NP_000329.2:p.Phe388SerfsTer?
NM_001184832.2:c.1163del	NP_001171761.1:p.Phe388SerfsTer?
NM_001384136.1:c.1163del	NP_001371065.1:p.Phe388SerfsTer?