Canonical Allele Identifier: CA1153814178

Gene: CLCN6 NPPA-AS1 NPPA

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11847669_11847672delinsTGGA , CM000663.2:g.11847669_11847672delinsTGGA	GRCh38
NC_000001.10:g.11907726_11907729delinsTGGA , CM000663.1:g.11907726_11907729delinsTGGA	GRCh37
NC_000001.9:g.11830313_11830316delinsTGGA	NCBI36
NG_012926.1:g.5112_5115delinsTCCA , LRG_751:g.5112_5115delinsTCCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000400892.3:c.*2054_*2057delinsTGGA (CLCN6)	ENSP00000496938.1:n.*2054_*2057delinsTGGA
ENST00000446542.5:n.1017_1020delinsTGGA (NPPA-AS1)
ENST00000376476.1:c.-27-233_-27-230delinsTCCA (NPPA)	ENSP00000365659.1:n.-27-233_-27-230delinsTCCA
ENST00000376480.7:c.13_16delinsTCCA (NPPA) MANE Select	ENSP00000365663.3:p.Ser5=
ENST00000610706.1:c.13_16delinsTCCA (NPPA)	ENSP00000483195.1:p.Ser5=
NM_006172.3:c.13_16delinsTCCA , LRG_751t1:c.13_16delinsTCCA (NPPA)	NP_006163.1:p.Ser5=
NM_006172.4:c.13_16delinsTCCA (NPPA) MANE Select	NP_006163.1:p.Ser5=