Canonical Allele Identifier: CA1153831237

Gene: CLCN6 NPPA-AS1 NPPA

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11846771_11846778delinsACACCCAG , CM000663.2:g.11846771_11846778delinsACACCCAG	GRCh38
NC_000001.10:g.11906828_11906835delinsACACCCAG , CM000663.1:g.11906828_11906835delinsACACCCAG	GRCh37
NC_000001.9:g.11829415_11829422delinsACACCCAG	NCBI36
NG_012926.1:g.6006_6013delinsCTGGGTGT , LRG_751:g.6006_6013delinsCTGGGTGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000400892.3:c.*1962-806_*1962-799delinsACACCCAG (CLCN6)	ENSP00000496938.1:n.*1962-806_*1962-799delinsACACCCAG
ENST00000446542.5:n.782-663_782-656delinsACACCCAG (NPPA-AS1)
ENST00000376476.1:c.300+335_300+342delinsCTGGGTGT (NPPA)	ENSP00000365659.1:n.300+335_300+342delinsCTGGGTGT
ENST00000376480.7:c.450+335_450+342delinsCTGGGTGT (NPPA) MANE Select	ENSP00000365663.3:n.450+335_450+342delinsCTGGGTGT
ENST00000610706.1:c.450+335_450+342delinsCTGGGTGT (NPPA)	ENSP00000483195.1:n.450+335_450+342delinsCTGGGTGT
NM_006172.3:c.450+335_450+342delinsCTGGGTGT , LRG_751t1:c.450+335_450+342delinsCTGGGTGT (NPPA)	NP_006163.1:n.450+335_450+342delinsCTGGGTGT
NR_037806.1:n.1480-663_1480-656delinsACACCCAG (NPPA-AS1)
NM_006172.4:c.450+335_450+342delinsCTGGGTGT (NPPA) MANE Select	NP_006163.1:n.450+335_450+342delinsCTGGGTGT