Canonical Allele Identifier: CA2573130538

Gene: CLCN6 NPPA-AS1 NPPA

Linked Data

• ClinVar Variation Id: 1460707
• ClinVar RCV Id: RCV001951718

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11846010_11846011delinsTG , CM000663.2:g.11846010_11846011delinsTG	GRCh38
NC_000001.10:g.11906067_11906068delinsTG , CM000663.1:g.11906067_11906068delinsTG	GRCh37
NC_000001.9:g.11828654_11828655delinsTG	NCBI36
NG_012926.1:g.6773_6774delinsCA , LRG_751:g.6773_6774delinsCA

Transcript Alleles

HGVS	Amino-acid change
ENST00000400892.3:c.*1961+244_*1961+245delinsTG (CLCN6)	ENSP00000496938.1:n.*1961+244_*1961+245de...
ENST00000446542.5:n.781+244_781+245delinsTG (NPPA-AS1)
ENST00000376476.1:c.304_305delinsCA (NPPA)	ENSP00000365659.1:p.Ter102Gln
ENST00000376480.7:c.454_455delinsCA (NPPA) MANE Select	ENSP00000365663.3:p.Ter152Gln
ENST00000610706.1:c.453+1_454-2delinsCA (NPPA)	ENSP00000483195.1:n.453+1_454-2delinsCA
NM_006172.3:c.454_455delinsCA , LRG_751t1:c.454_455delinsCA (NPPA)	NP_006163.1:p.Ter152Gln
NR_037806.1:n.1479+244_1479+245delinsTG (NPPA-AS1)
NM_006172.4:c.454_455delinsCA (NPPA) MANE Select	NP_006163.1:p.Ter152Gln