Canonical Allele Identifier: CA2542025098

Gene: CLCN6 NPPA-AS1 NPPA

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11847167_11847168insATAGAAGGATTATTATAGAGGCCGTCTGAAACAGAAATCATGCGGCCGGAGGAATTCACCATGTCTCGACTCATCTGTAAAACCCTATTTGTTTGTACCACCGGCCTATTGTTGGCCTCCTGCGGCACAA , CM000663.2:g.11847167_11847168insATAGAAGGATTATTATAGAGGCCGTCTGAAACAGAAATCATGCGGCCGGAGGAATTCACCATGTCTCGACTCATCTGTAAAACCCTATTTGTTTGTACCACCGGCCTATTGTTGGCCTCCTGCGGCACAA	GRCh38
NC_000001.10:g.11907224_11907225insATAGAAGGATTATTATAGAGGCCGTCTGAAACAGAAATCATGCGGCCGGAGGAATTCACCATGTCTCGACTCATCTGTAAAACCCTATTTGTTTGTACCACCGGCCTATTGTTGGCCTCCTGCGGCACAA , CM000663.1:g.11907224_11907225insATAGAAGGATTATTATAGAGGCCGTCTGAAACAGAAATCATGCGGCCGGAGGAATTCACCATGTCTCGACTCATCTGTAAAACCCTATTTGTTTGTACCACCGGCCTATTGTTGGCCTCCTGCGGCACAA	GRCh37
NC_000001.9:g.11829811_11829812insATAGAAGGATTATTATAGAGGCCGTCTGAAACAGAAATCATGCGGCCGGAGGAATTCACCATGTCTCGACTCATCTGTAAAACCCTATTTGTTTGTACCACCGGCCTATTGTTGGCCTCCTGCGGCACAA	NCBI36
NG_012926.1:g.5616_5617insTTGTGCCGCAGGAGGCCAACAATAGGCCGGTGGTACAAACAAATAGGGTTTTACAGATGAGTCGAGACATGGTGAATTCCTCCGGCCGCATGATTTCTGTTTCAGACGGCCTCTATAATAATCCTTCTAT , LRG_751:g.5616_5617insTTGTGCCGCAGGAGGCCAACAATAGGCCGGTGGTACAAACAAATAGGGTTTTACAGATGAGTCGAGACATGGTGAATTCCTCCGGCCGCATGATTTCTGTTTCAGACGGCCTCTATAATAATCCTTCTAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000400892.3:c.*1962-410_*1962-409insATAGAAGGATTATTATAGAGGCCGTCTGAAACAGAAATCATGCGGCCGGAGGAATTCACCATGTCTCGACTCATCTGTAAAACCCTATTTGTTTGTACCACCGGCCTATTGTTGGCCTCCTGCGGCACAA (CLCN6)	ENSP00000496938.1:n.*1962-410_*1962-409insATAGAAGGATTATTATAGA...
ENST00000446542.5:n.782-267_782-266insATAGAAGGATTATTATAGAGGCCGTCTGAAACAGAAATCATGCGGCCGGAGGAATTCACCATGTCTCGACTCATCTGTAAAACCCTATTTGTTTGTACCACCGGCCTATTGTTGGCCTCCTGCGGCACAA (NPPA-AS1)
ENST00000376476.1:c.245_246insTTGTGCCGCAGGAGGCCAACAATAGGCCGGTGGTACAAACAAATAGGGTTTTACAGATGAGTCGAGACATGGTGAATTCCTCCGGCCGCATGATTTCTGTTTCAGACGGCCTCTATAATAATCCTTCTAT (NPPA)	ENSP00000365659.1:p.Gly83CysfsTer8
ENST00000376480.7:c.395_396insTTGTGCCGCAGGAGGCCAACAATAGGCCGGTGGTACAAACAAATAGGGTTTTACAGATGAGTCGAGACATGGTGAATTCCTCCGGCCGCATGATTTCTGTTTCAGACGGCCTCTATAATAATCCTTCTAT (NPPA) MANE Select	ENSP00000365663.3:p.Gly133CysfsTer8
ENST00000610706.1:c.395_396insTTGTGCCGCAGGAGGCCAACAATAGGCCGGTGGTACAAACAAATAGGGTTTTACAGATGAGTCGAGACATGGTGAATTCCTCCGGCCGCATGATTTCTGTTTCAGACGGCCTCTATAATAATCCTTCTAT (NPPA)	ENSP00000483195.1:p.Gly133CysfsTer8
NM_006172.3:c.395_396insTTGTGCCGCAGGAGGCCAACAATAGGCCGGTGGTACAAACAAATAGGGTTTTACAGATGAGTCGAGACATGGTGAATTCCTCCGGCCGCATGATTTCTGTTTCAGACGGCCTCTATAATAATCCTTCTAT , LRG_751t1:c.395_396insTTGTGCCGCAGGAGGCCAACAATAGGCCGGTGGTACAAACAAATAGGGTTTTACAGATGAGTCGAGACATGGTGAATTCCTCCGGCCGCATGATTTCTGTTTCAGACGGCCTCTATAATAATCCTTCTAT (NPPA)	NP_006163.1:p.Gly133CysfsTer8
NR_037806.1:n.1480-267_1480-266insATAGAAGGATTATTATAGAGGCCGTCTGAAACAGAAATCATGCGGCCGGAGGAATTCACCATGTCTCGACTCATCTGTAAAACCCTATTTGTTTGTACCACCGGCCTATTGTTGGCCTCCTGCGGCACAA (NPPA-AS1)
NM_006172.4:c.395_396insTTGTGCCGCAGGAGGCCAACAATAGGCCGGTGGTACAAACAAATAGGGTTTTACAGATGAGTCGAGACATGGTGAATTCCTCCGGCCGCATGATTTCTGTTTCAGACGGCCTCTATAATAATCCTTCTAT (NPPA) MANE Select	NP_006163.1:p.Gly133CysfsTer8