Canonical Allele Identifier: CA2643310229
Gene: CLCN6 HGNC NCBI
NPPA-AS1 HGNC NCBI

Linked Data

gnomAD v4: 1-11844221-CCT-C
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.11844223_11844224del , CM000663.2:g.11844223_11844224del GRCh38
NC_000001.10:g.11904280_11904281del , CM000663.1:g.11904280_11904281del GRCh37
NC_000001.9:g.11826867_11826868del NCBI36
NG_008766.1:g.43074_43075del
NG_012926.1:g.8561_8562del , LRG_751:g.8561_8562del

Transcript Alleles

HGVS Amino-acid Change
ENST00000400892.3:c.*1741+150_*1741+151del (CLCN6) ENSP00000496938.1:n.*1741+150_*1741+151del
ENST00000446542.5:n.561+150_561+151del (NPPA-AS1)
NR_037806.1:n.1259+150_1259+151del (NPPA-AS1)
Search 100 bp 5'
Search 100 bp 3'