Canonical Allele Identifier: CA521195370
Gene: CLCN6 HGNC NCBI
NPPA-AS1 HGNC NCBI

Linked Data

dbSNP Id: rs1170951692
gnomAD v2: 1-11903628-CCCTA-C
gnomAD v3: 1-11843571-CCCTA-C
gnomAD v4: 1-11843571-CCCTA-C
MyVariant Identifiers: chr1:g.11903629_11903632del (hg19) chr1:g.11843572_11843575del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.11843572_11843575del , CM000663.2:g.11843572_11843575del GRCh38
NC_000001.10:g.11903629_11903632del , CM000663.1:g.11903629_11903632del GRCh37
NC_000001.9:g.11826216_11826219del NCBI36
NG_008766.1:g.42423_42426del

Transcript Alleles

HGVS Amino-acid Change
ENST00000400892.3:c.*1402-162_*1402-159del (CLCN6) ENSP00000496938.1:n.*1402-162_*1402-159del
ENST00000446542.5:n.192-132_192-129del (NPPA-AS1)
NR_037806.1:n.890-132_890-129del (NPPA-AS1)
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