Canonical Allele Identifier: CA2742482486

Gene: CLCN6 NPPA-AS1 NPPA

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11846942_11846943insTTTTTT , CM000663.2:g.11846942_11846943insTTTTTT	GRCh38
NC_000001.10:g.11906999_11907000insTTTTTT , CM000663.1:g.11906999_11907000insTTTTTT	GRCh37
NC_000001.9:g.11829586_11829587insTTTTTT	NCBI36
NG_012926.1:g.5842_5843insAAAAAA , LRG_751:g.5842_5843insAAAAAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000400892.3:c.*1962-635_*1962-634insTTTTTT (CLCN6)	ENSP00000496938.1:n.*1962-635_*1962-634insTTTTTT
ENST00000446542.5:n.782-492_782-491insTTTTTT (NPPA-AS1)
ENST00000376476.1:c.300+171_300+172insAAAAAA (NPPA)	ENSP00000365659.1:n.300+171_300+172insAAAAAA
ENST00000376480.7:c.450+171_450+172insAAAAAA (NPPA) MANE Select	ENSP00000365663.3:n.450+171_450+172insAAAAAA
ENST00000610706.1:c.450+171_450+172insAAAAAA (NPPA)	ENSP00000483195.1:n.450+171_450+172insAAAAAA
NM_006172.3:c.450+171_450+172insAAAAAA , LRG_751t1:c.450+171_450+172insAAAAAA (NPPA)	NP_006163.1:n.450+171_450+172insAAAAAA
NR_037806.1:n.1480-492_1480-491insTTTTTT (NPPA-AS1)
NM_006172.4:c.450+171_450+172insAAAAAA (NPPA) MANE Select	NP_006163.1:n.450+171_450+172insAAAAAA