Canonical Allele Identifier: CA744846617
Gene: SLC12A5-AS1 HGNC NCBI

Linked Data

dbSNP Id: rs1414707884
gnomAD v3: 20-46016598-ATGCATGTAT-A
gnomAD v4: 20-46016598-ATGCATGTAT-A
MyVariant Identifiers: chr20:g.44645238_44645246del (hg19) chr20:g.46016599_46016607del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.46016599_46016607del , CM000682.2:g.46016599_46016607del GRCh38
NC_000020.10:g.44645238_44645246del , CM000682.1:g.44645238_44645246del GRCh37
NC_000020.9:g.44078645_44078653del NCBI36
NG_011468.1:g.12692_12700del

Transcript Alleles

HGVS Amino-acid Change
NR_147699.1:n.669-1819_669-1811del
Search 100 bp 5'
Search 100 bp 3'