Canonical Allele Identifier: CA597052
Gene: CLCN6 HGNC NCBI
NPPA-AS1 HGNC NCBI
NPPA HGNC NCBI

Linked Data

ClinVar Variation Id: 2136334
ClinVar RCV Id: RCV003037121 RCV003427549
dbSNP Id: rs761550841
ExAC: 1:11907390 AG / A
gnomAD v2: 1-11907390-AG-A
gnomAD v3: 1-11847333-AG-A
gnomAD v4: 1-11847333-AG-A
MyVariant Identifiers: chr1:g.11907391del (hg19) chr1:g.11847334del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.11847338del , CM000663.2:g.11847338del GRCh38
NC_000001.10:g.11907395del , CM000663.1:g.11907395del GRCh37
NC_000001.9:g.11829982del NCBI36
NG_012926.1:g.5450del , LRG_751:g.5450del

Transcript Alleles

HGVS Amino-acid Change
ENST00000400892.3:c.*1962-239del (CLCN6) ENSP00000496938.1:n.*1962-239del
ENST00000446542.5:n.782-96del (NPPA-AS1)
ENST00000376476.1:c.79del (NPPA) ENSP00000365659.1:p.Leu27SerfsTer?
ENST00000376480.7:c.229del (NPPA) MANE Select ENSP00000365663.3:p.Leu77SerfsTer?
ENST00000610706.1:c.229del (NPPA) ENSP00000483195.1:p.Leu77SerfsTer?
NM_006172.3:c.229del , LRG_751t1:c.229del (NPPA) NP_006163.1:p.Leu77SerfsTer?
NR_037806.1:n.1480-96del (NPPA-AS1)
NM_006172.4:c.229del (NPPA) MANE Select NP_006163.1:p.Leu77SerfsTer?
Search 100 bp 5'
Search 100 bp 3'