Canonical Allele Identifier: CA2643309398
Gene: CLCN6 HGNC NCBI
NPPA-AS1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.11843734_11843736del , CM000663.2:g.11843734_11843736del GRCh38
NC_000001.10:g.11903791_11903793del , CM000663.1:g.11903791_11903793del GRCh37
NC_000001.9:g.11826378_11826380del NCBI36
NG_008766.1:g.42585_42587del
NG_012926.1:g.9048_9050del , LRG_751:g.9048_9050del

Transcript Alleles

HGVS Amino-acid Change
ENST00000400892.3:c.*1402_*1404del (CLCN6) ENSP00000496938.1:n.*1402_*1404del
ENST00000446542.5:n.222_224del (NPPA-AS1)
NR_037806.1:n.920_922del (NPPA-AS1)