Canonical Allele Identifier: CA2509918398

Gene: CLCN6 NPPA-AS1 NPPA

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11846929_11846931del , CM000663.2:g.11846929_11846931del	GRCh38
NC_000001.10:g.11906986_11906988del , CM000663.1:g.11906986_11906988del	GRCh37
NC_000001.9:g.11829573_11829575del	NCBI36
NG_012926.1:g.5860_5862del , LRG_751:g.5860_5862del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000400892.3:c.*1962-648_*1962-646del (CLCN6)	ENSP00000496938.1:n.*1962-648_*1962-646del
ENST00000446542.5:n.782-505_782-503del (NPPA-AS1)
ENST00000376476.1:c.300+189_300+191del (NPPA)	ENSP00000365659.1:n.300+189_300+191del
ENST00000376480.7:c.450+189_450+191del (NPPA) MANE Select	ENSP00000365663.3:n.450+189_450+191del
ENST00000610706.1:c.450+189_450+191del (NPPA)	ENSP00000483195.1:n.450+189_450+191del
NM_006172.3:c.450+189_450+191del , LRG_751t1:c.450+189_450+191del (NPPA)	NP_006163.1:n.450+189_450+191del
NR_037806.1:n.1480-505_1480-503del (NPPA-AS1)
NM_006172.4:c.450+189_450+191del (NPPA) MANE Select	NP_006163.1:n.450+189_450+191del