Canonical Allele Identifier: CA2643311718
Gene: CLCN6 HGNC NCBI
NPPA-AS1 HGNC NCBI
NPPA HGNC NCBI

Linked Data

gnomAD v4: 1-11847164-GC-G
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.11847169del , CM000663.2:g.11847169del GRCh38
NC_000001.10:g.11907226del , CM000663.1:g.11907226del GRCh37
NC_000001.9:g.11829813del NCBI36
NG_012926.1:g.5619del , LRG_751:g.5619del

Transcript Alleles

HGVS Amino-acid Change
ENST00000400892.3:c.*1962-408del (CLCN6) ENSP00000496938.1:n.*1962-408del
ENST00000446542.5:n.782-265del (NPPA-AS1)
ENST00000376476.1:c.248del (NPPA) ENSP00000365659.1:p.Gly83AlafsTer?
ENST00000376480.7:c.398del (NPPA) MANE Select ENSP00000365663.3:p.Gly133AlafsTer?
ENST00000610706.1:c.398del (NPPA) ENSP00000483195.1:p.Gly133AlafsTer?
NM_006172.3:c.398del , LRG_751t1:c.398del (NPPA) NP_006163.1:p.Gly133AlafsTer?
NR_037806.1:n.1480-265del (NPPA-AS1)
NM_006172.4:c.398del (NPPA) MANE Select NP_006163.1:p.Gly133AlafsTer?
Search 100 bp 5'
Search 100 bp 3'