Canonical Allele Identifier: CA521195507
Gene: CLCN6 HGNC NCBI
NPPA-AS1 HGNC NCBI

Linked Data

dbSNP Id: rs1369731023
gnomAD v2: 1-11905684-TC-T
gnomAD v3: 1-11845627-TC-T
gnomAD v4: 1-11845627-TC-T
MyVariant Identifiers: chr1:g.11905685del (hg19) chr1:g.11845628del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.11845629del , CM000663.2:g.11845629del GRCh38
NC_000001.10:g.11905686del , CM000663.1:g.11905686del GRCh37
NC_000001.9:g.11828273del NCBI36
NG_012926.1:g.7156del , LRG_751:g.7156del

Transcript Alleles

HGVS Amino-acid Change
ENST00000400892.3:c.*1824del (CLCN6) ENSP00000496938.1:n.*1824del
ENST00000446542.5:n.644del (NPPA-AS1)
NR_037806.1:n.1342del (NPPA-AS1)
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