Canonical Allele Identifier: CA2643310689
Gene: CLCN6 HGNC NCBI
NPPA-AS1 HGNC NCBI
NPPA HGNC NCBI

Linked Data

gnomAD v4: 1-11845746-TC-T
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.11845747del , CM000663.2:g.11845747del GRCh38
NC_000001.10:g.11905804del , CM000663.1:g.11905804del GRCh37
NC_000001.9:g.11828391del NCBI36
NG_012926.1:g.7037del , LRG_751:g.7037del

Transcript Alleles

HGVS Amino-acid change
ENST00000400892.3:c.*1942del (CLCN6) ENSP00000496938.1:n.*1942del
ENST00000446542.5:n.762del (NPPA-AS1)
ENST00000376480.7:c.*262del (NPPA) MANE Select ENSP00000365663.3:n.*262del
ENST00000610706.1:c.*256del (NPPA) ENSP00000483195.1:n.*256del
NM_006172.3:c.*262del , LRG_751t1:c.*262del (NPPA) NP_006163.1:n.*262del
NR_037806.1:n.1460del (NPPA-AS1)
NM_006172.4:c.*262del (NPPA) MANE Select NP_006163.1:n.*262del
Search 100 bp 5'
Search 100 bp 3'