Canonical Allele Identifier: CA886104187
Gene: CLCN6 HGNC NCBI
NPPA-AS1 HGNC NCBI

Linked Data

dbSNP Id: rs1348692333
gnomAD v3: 1-11844158-GT-G
gnomAD v4: 1-11844158-GT-G
MyVariant Identifiers: chr1:g.11904216del (hg19) chr1:g.11844159del (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.11844160del , CM000663.2:g.11844160del GRCh38
NC_000001.10:g.11904217del , CM000663.1:g.11904217del GRCh37
NC_000001.9:g.11826804del NCBI36
NG_008766.1:g.43011del
NG_012926.1:g.8625del , LRG_751:g.8625del

Transcript Alleles

HGVS Amino-acid Change
ENST00000400892.3:c.*1741+87del (CLCN6) ENSP00000496938.1:n.*1741+87del
ENST00000446542.5:n.561+87del (NPPA-AS1)
NR_037806.1:n.1259+87del (NPPA-AS1)
Search 100 bp 5'
Search 100 bp 3'