Canonical Allele Identifier: CA1153831206

Gene: CLCN6 NPPA-AS1 NPPA

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11846748_11846750delinsTGA , CM000663.2:g.11846748_11846750delinsTGA	GRCh38
NC_000001.10:g.11906805_11906807delinsTGA , CM000663.1:g.11906805_11906807delinsTGA	GRCh37
NC_000001.9:g.11829392_11829394delinsTGA	NCBI36
NG_012926.1:g.6034_6036delinsTCA , LRG_751:g.6034_6036delinsTCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000400892.3:c.*1962-829_*1962-827delinsTGA (CLCN6)	ENSP00000496938.1:n.*1962-829_*1962-827delinsTGA
ENST00000446542.5:n.782-686_782-684delinsTGA (NPPA-AS1)
ENST00000376476.1:c.300+363_300+365delinsTCA (NPPA)	ENSP00000365659.1:n.300+363_300+365delinsTCA
ENST00000376480.7:c.450+363_450+365delinsTCA (NPPA) MANE Select	ENSP00000365663.3:n.450+363_450+365delinsTCA
ENST00000610706.1:c.450+363_450+365delinsTCA (NPPA)	ENSP00000483195.1:n.450+363_450+365delinsTCA
NM_006172.3:c.450+363_450+365delinsTCA , LRG_751t1:c.450+363_450+365delinsTCA (NPPA)	NP_006163.1:n.450+363_450+365delinsTCA
NR_037806.1:n.1480-686_1480-684delinsTGA (NPPA-AS1)
NM_006172.4:c.450+363_450+365delinsTCA (NPPA) MANE Select	NP_006163.1:n.450+363_450+365delinsTCA