Canonical Allele Identifier: CA713390932

Gene: SLC12A1

Linked Data

• ClinVar Variation Id: 975927
• ClinVar RCV Id: RCV001253066
• dbSNP Id: rs1057520304
• gnomAD v3: 15-48251656-CTT-C
• gnomAD v4: 15-48251656-CTT-C
• MyVariant Identifiers: chr15:g.48543854_48543855del (hg19) ; chr15:g.48251657_48251658del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48251660_48251661del , CM000677.2:g.48251660_48251661del	GRCh38
NC_000015.9:g.48543857_48543858del , CM000677.1:g.48543857_48543858del	GRCh37
NC_000015.8:g.46331149_46331150del	NCBI36
NG_021301.1:g.50360_50361del

Transcript Alleles

HGVS	Amino-acid change
ENST00000686073.1:c.1832_1833del	ENSP00000508901.1:p.Phe611TrpfsTer24
ENST00000380993.8:c.1832_1833del MANE Select	ENSP00000370381.3:p.Phe611TrpfsTer24
ENST00000646012.1:c.1970_1971del	ENSP00000495813.1:p.Phe657TrpfsTer24
ENST00000647232.1:c.1832_1833del	ENSP00000493875.1:p.Phe611TrpfsTer24
ENST00000647546.1:c.1832_1833del	ENSP00000495332.1:p.Phe611TrpfsTer24
ENST00000380993.7:c.1832_1833del	ENSP00000370381.3:p.Phe611TrpfsTer24
ENST00000396577.7:c.1832_1833del	ENSP00000379822.3:p.Phe611TrpfsTer24
ENST00000558252.5:n.5955_5956del
ENST00000558405.5:c.1832_1833del	ENSP00000453409.1:p.Phe611TrpfsTer24
ENST00000559641.5:c.1271_1272del	ENSP00000453230.1:p.Phe424TrpfsTer24
ENST00000560692.5:n.5971_5972del
NM_000338.2:c.1832_1833del	NP_000329.2:p.Phe611TrpfsTer24
NM_001184832.1:c.1832_1833del	NP_001171761.1:p.Phe611TrpfsTer24
XM_005254605.1:c.1928_1929del	XP_005254662.1:p.Phe643TrpfsTer24
XM_005254606.1:c.1832_1833del	XP_005254663.1:p.Phe611TrpfsTer24
XM_006720656.1:c.1928_1929del	XP_006720719.1:p.Phe643TrpfsTer24
XR_931896.1:n.2144_2145del
XM_005254606.2:c.1832_1833del	XP_005254663.1:p.Phe611TrpfsTer24
NM_000338.3:c.1832_1833del MANE Select	NP_000329.2:p.Phe611TrpfsTer24
NM_001184832.2:c.1832_1833del	NP_001171761.1:p.Phe611TrpfsTer24
NM_001384136.1:c.1832_1833del	NP_001371065.1:p.Phe611TrpfsTer24