Canonical Allele Identifier: CA2643309523

Gene: CLCN6 NPPA-AS1

Linked Data

• gnomAD v4: 1-11843789-CAT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11843790_11843791del , CM000663.2:g.11843790_11843791del	GRCh38
NC_000001.10:g.11903847_11903848del , CM000663.1:g.11903847_11903848del	GRCh37
NC_000001.9:g.11826434_11826435del	NCBI36
NG_008766.1:g.42641_42642del
NG_012926.1:g.8993_8994del , LRG_751:g.8993_8994del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000400892.3:c.*1458_*1459del (CLCN6)	ENSP00000496938.1:n.*1458_*1459del
ENST00000446542.5:n.278_279del (NPPA-AS1)
NR_037806.1:n.976_977del (NPPA-AS1)