Canonical Allele Identifier: CA18006940
Gene: CLCN6 HGNC NCBI
NPPA-AS1 HGNC NCBI

Linked Data

dbSNP Id: rs967156605
gnomAD v2: 1-11904079-TC-T
gnomAD v3: 1-11844022-TC-T
gnomAD v4: 1-11844022-TC-T
MyVariant Identifiers: chr1:g.11904080del (hg19) chr1:g.11844023del (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.11844024del , CM000663.2:g.11844024del GRCh38
NC_000001.10:g.11904081del , CM000663.1:g.11904081del GRCh37
NC_000001.9:g.11826668del NCBI36
NG_008766.1:g.42875del
NG_012926.1:g.8761del , LRG_751:g.8761del

Transcript Alleles

HGVS Amino-acid change
ENST00000400892.3:c.*1692del (CLCN6) ENSP00000496938.1:n.*1692del
ENST00000446542.5:n.512del (NPPA-AS1)
NR_037806.1:n.1210del (NPPA-AS1)
Search 100 bp 5'
Search 100 bp 3'