Canonical Allele Identifier: CA2832535015

Gene: CLCN6 NPPA-AS1 NPPA

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11846011del , CM000663.2:g.11846011del	GRCh38
NC_000001.10:g.11906068del , CM000663.1:g.11906068del	GRCh37
NC_000001.9:g.11828655del	NCBI36
NG_012926.1:g.6773del , LRG_751:g.6773del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000400892.3:c.*1961+245del (CLCN6)	ENSP00000496938.1:n.*1961+245del
ENST00000446542.5:n.781+245del (NPPA-AS1)
ENST00000376476.1:c.304del (NPPA)	ENSP00000365659.1:p.Ter102GluextTer?
ENST00000376480.7:c.454del (NPPA) MANE Select	ENSP00000365663.3:p.Ter152GluextTer?
ENST00000610706.1:c.453+1del (NPPA)	ENSP00000483195.1:n.453+1del
NM_006172.3:c.454del , LRG_751t1:c.454del (NPPA)	NP_006163.1:p.Ter152GluextTer?
NR_037806.1:n.1479+245del (NPPA-AS1)
NM_006172.4:c.454del (NPPA) MANE Select	NP_006163.1:p.Ter152GluextTer?