Canonical Allele Identifier: CA1153832427

Gene: CLCN6 NPPA-AS1 NPPA

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11847381_11847384delinsTGTG , CM000663.2:g.11847381_11847384delinsTGTG	GRCh38
NC_000001.10:g.11907438_11907441delinsTGTG , CM000663.1:g.11907438_11907441delinsTGTG	GRCh37
NC_000001.9:g.11830025_11830028delinsTGTG	NCBI36
NG_012926.1:g.5400_5403delinsCACA , LRG_751:g.5400_5403delinsCACA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000400892.3:c.*1962-196_*1962-193delinsTGTG (CLCN6)	ENSP00000496938.1:n.*1962-196_*1962-193delinsTGTG
ENST00000446542.5:n.782-53_782-50delinsTGTG (NPPA-AS1)
ENST00000376476.1:c.29_32delinsCACA (NPPA)	ENSP00000365659.1:p.Pro10=
ENST00000376480.7:c.179_182delinsCACA (NPPA) MANE Select	ENSP00000365663.3:p.Pro60=
ENST00000610706.1:c.179_182delinsCACA (NPPA)	ENSP00000483195.1:p.Pro60=
NM_006172.3:c.179_182delinsCACA , LRG_751t1:c.179_182delinsCACA (NPPA)	NP_006163.1:p.Pro60=
NR_037806.1:n.1480-53_1480-50delinsTGTG (NPPA-AS1)
NM_006172.4:c.179_182delinsCACA (NPPA) MANE Select	NP_006163.1:p.Pro60=