Canonical Allele Identifier: CA1153831708

Gene: CLCN6 NPPA-AS1 NPPA

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11847038_11847039delinsAT , CM000663.2:g.11847038_11847039delinsAT	GRCh38
NC_000001.10:g.11907095_11907096delinsAT , CM000663.1:g.11907095_11907096delinsAT	GRCh37
NC_000001.9:g.11829682_11829683delinsAT	NCBI36
NG_012926.1:g.5745_5746delinsAT , LRG_751:g.5745_5746delinsAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000400892.3:c.*1962-539_*1962-538delinsAT (CLCN6)	ENSP00000496938.1:n.*1962-539_*1962-538delinsAT
ENST00000446542.5:n.782-396_782-395delinsAT (NPPA-AS1)
ENST00000376476.1:c.300+74_300+75delinsAT (NPPA)	ENSP00000365659.1:n.300+74_300+75delinsAT
ENST00000376480.7:c.450+74_450+75delinsAT (NPPA) MANE Select	ENSP00000365663.3:n.450+74_450+75delinsAT
ENST00000610706.1:c.450+74_450+75delinsAT (NPPA)	ENSP00000483195.1:n.450+74_450+75delinsAT
NM_006172.3:c.450+74_450+75delinsAT , LRG_751t1:c.450+74_450+75delinsAT (NPPA)	NP_006163.1:n.450+74_450+75delinsAT
NR_037806.1:n.1480-396_1480-395delinsAT (NPPA-AS1)
NM_006172.4:c.450+74_450+75delinsAT (NPPA) MANE Select	NP_006163.1:n.450+74_450+75delinsAT