Canonical Allele Identifier: CA886104147
Gene: CLCN6 HGNC NCBI
NPPA-AS1 HGNC NCBI

Linked Data

dbSNP Id: rs1394966994
gnomAD v3: 1-11843989-AATC-A
gnomAD v4: 1-11843989-AATC-A
MyVariant Identifiers: chr1:g.11904047_11904049del (hg19) chr1:g.11843990_11843992del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.11843995_11843997del , CM000663.2:g.11843995_11843997del GRCh38
NC_000001.10:g.11904052_11904054del , CM000663.1:g.11904052_11904054del GRCh37
NC_000001.9:g.11826639_11826641del NCBI36
NG_008766.1:g.42846_42848del
NG_012926.1:g.8792_8794del , LRG_751:g.8792_8794del

Transcript Alleles

HGVS Amino-acid Change
ENST00000400892.3:c.*1663_*1665del (CLCN6) ENSP00000496938.1:n.*1663_*1665del
ENST00000446542.5:n.483_485del (NPPA-AS1)
NR_037806.1:n.1181_1183del (NPPA-AS1)
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