Canonical Allele Identifier: CA18006965
Gene: CLCN6 HGNC NCBI
NPPA-AS1 HGNC NCBI

Linked Data

dbSNP Id: rs955361704
gnomAD v2: 1-11904177-ATCAGTT-A
gnomAD v3: 1-11844120-ATCAGTT-A
gnomAD v4: 1-11844120-ATCAGTT-A
MyVariant Identifiers: chr1:g.11904178_11904183del (hg19) chr1:g.11844121_11844126del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.11844124_11844129del , CM000663.2:g.11844124_11844129del GRCh38
NC_000001.10:g.11904181_11904186del , CM000663.1:g.11904181_11904186del GRCh37
NC_000001.9:g.11826768_11826773del NCBI36
NG_008766.1:g.42975_42980del
NG_012926.1:g.8658_8663del , LRG_751:g.8658_8663del

Transcript Alleles

HGVS Amino-acid Change
ENST00000400892.3:c.*1741+51_*1741+56del (CLCN6) ENSP00000496938.1:n.*1741+51_*1741+56del
ENST00000446542.5:n.561+51_561+56del (NPPA-AS1)
NR_037806.1:n.1259+51_1259+56del (NPPA-AS1)
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