Canonical Allele Identifier: CA1153831545

Gene: CLCN6 NPPA-AS1 NPPA

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11846931_11846936delinsTAAGCA , CM000663.2:g.11846931_11846936delinsTAAGCA	GRCh38
NC_000001.10:g.11906988_11906993delinsTAAGCA , CM000663.1:g.11906988_11906993delinsTAAGCA	GRCh37
NC_000001.9:g.11829575_11829580delinsTAAGCA	NCBI36
NG_012926.1:g.5848_5853delinsTGCTTA , LRG_751:g.5848_5853delinsTGCTTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000400892.3:c.*1962-646_*1962-641delinsTAAGCA (CLCN6)	ENSP00000496938.1:n.*1962-646_*1962-641delinsTAAGCA
ENST00000446542.5:n.782-503_782-498delinsTAAGCA (NPPA-AS1)
ENST00000376476.1:c.300+177_300+182delinsTGCTTA (NPPA)	ENSP00000365659.1:n.300+177_300+182delinsTGCTTA
ENST00000376480.7:c.450+177_450+182delinsTGCTTA (NPPA) MANE Select	ENSP00000365663.3:n.450+177_450+182delinsTGCTTA
ENST00000610706.1:c.450+177_450+182delinsTGCTTA (NPPA)	ENSP00000483195.1:n.450+177_450+182delinsTGCTTA
NM_006172.3:c.450+177_450+182delinsTGCTTA , LRG_751t1:c.450+177_450+182delinsTGCTTA (NPPA)	NP_006163.1:n.450+177_450+182delinsTGCTTA
NR_037806.1:n.1480-503_1480-498delinsTAAGCA (NPPA-AS1)
NM_006172.4:c.450+177_450+182delinsTGCTTA (NPPA) MANE Select	NP_006163.1:n.450+177_450+182delinsTGCTTA