Canonical Allele Identifier: CA315639784

Gene: SLC12A5-AS1

Linked Data

• ClinVar Variation Id: 1227598
• ClinVar RCV Id: RCV001611580
• dbSNP Id: rs11476145
• gnomAD v2: 20-44645266-CAA-C
• gnomAD v3: 20-46016627-CAA-C
• gnomAD v4: 20-46016627-CAA-C
• MyVariant Identifiers: chr20:g.44645269_44645270del (hg19) ; chr20:g.44645267_44645268del (hg19) ; chr20:g.46016630_46016631del (hg38) ; chr20:g.46016628_46016629del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.46016643_46016644del , CM000682.2:g.46016643_46016644del	GRCh38
NC_000020.10:g.44645282_44645283del , CM000682.1:g.44645282_44645283del	GRCh37
NC_000020.9:g.44078689_44078690del	NCBI36
NG_011468.1:g.12736_12737del

Transcript Alleles

HGVS	Amino-acid Change
NR_147699.1:n.669-1841_669-1840del