Canonical Allele Identifier: CA281520025

Gene: SLC12A3

Linked Data

• ClinVar Variation Id: 1239283
• ClinVar RCV Id: RCV001636191
• dbSNP Id: rs571731386
• gnomAD v2: 16-56936688-TCC-T
• gnomAD v3: 16-56902776-TCC-T
• gnomAD v4: 16-56902776-TCC-T
• MyVariant Identifiers: chr16:g.56936689_56936690del (hg19) ; chr16:g.56902777_56902778del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56902777_56902778del , CM000678.2:g.56902777_56902778del	GRCh38
NC_000016.9:g.56936689_56936690del , CM000678.1:g.56936689_56936690del	GRCh37
NC_000016.8:g.55494190_55494191del	NCBI36
NG_009386.1:g.42571_42572del
NG_009386.2:g.42571_42572del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000563236.6:c.2856+269_2856+270del MANE Select	ENSP00000456149.2:n.2856+269_2856+270del
ENST00000262502.5:c.2853+269_2853+270del	ENSP00000262502.5:n.2853+269_2853+270del
ENST00000438926.6:c.2883+269_2883+270del	ENSP00000402152.2:n.2883+269_2883+270del
ENST00000563236.5:c.2856+269_2856+270del	ENSP00000456149.1:n.2856+269_2856+270del
ENST00000566786.5:c.2880+269_2880+270del	ENSP00000457552.1:n.2880+269_2880+270del
ENST00000569002.1:n.287+269_287+270del
NM_000339.2:c.2883+269_2883+270del	NP_000330.2:n.2883+269_2883+270del
NM_001126107.1:c.2880+269_2880+270del	NP_001119579.1:n.2880+269_2880+270del
NM_001126108.1:c.2856+269_2856+270del	NP_001119580.1:n.2856+269_2856+270del
XM_005256119.1:c.2853+269_2853+270del	XP_005256176.1:n.2853+269_2853+270del
XM_005256119.2:c.2853+269_2853+270del	XP_005256176.1:n.2853+269_2853+270del
NM_000339.3:c.2883+269_2883+270del	NP_000330.3:n.2883+269_2883+270del
NM_001126107.2:c.2880+269_2880+270del	NP_001119579.2:n.2880+269_2880+270del
NM_001126108.2:c.2856+269_2856+270del MANE Select	NP_001119580.2:n.2856+269_2856+270del