Canonical Allele Identifier: CA18006873
Gene: CLCN6 HGNC NCBI
NPPA-AS1 HGNC NCBI

Linked Data

dbSNP Id: rs778208277
gnomAD v2: 1-11903908-CAGA-C
gnomAD v3: 1-11843851-CAGA-C
gnomAD v4: 1-11843851-CAGA-C
MyVariant Identifiers: chr1:g.11903909_11903911del (hg19) chr1:g.11843852_11843854del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.11843857_11843859del , CM000663.2:g.11843857_11843859del GRCh38
NC_000001.10:g.11903914_11903916del , CM000663.1:g.11903914_11903916del GRCh37
NC_000001.9:g.11826501_11826503del NCBI36
NG_008766.1:g.42708_42710del
NG_012926.1:g.8930_8932del , LRG_751:g.8930_8932del

Transcript Alleles

HGVS Amino-acid change
ENST00000400892.3:c.*1525_*1527del (CLCN6) ENSP00000496938.1:n.*1525_*1527del
ENST00000446542.5:n.345_347del (NPPA-AS1)
NR_037806.1:n.1043_1045del (NPPA-AS1)
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