Canonical Allele Identifier: CA2643309498
Gene: CLCN6 HGNC NCBI
NPPA-AS1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.11843782_11843786del , CM000663.2:g.11843782_11843786del GRCh38
NC_000001.10:g.11903839_11903843del , CM000663.1:g.11903839_11903843del GRCh37
NC_000001.9:g.11826426_11826430del NCBI36
NG_008766.1:g.42633_42637del
NG_012926.1:g.8998_9002del , LRG_751:g.8998_9002del

Transcript Alleles

HGVS Amino-acid Change
ENST00000400892.3:c.*1450_*1454del (CLCN6) ENSP00000496938.1:n.*1450_*1454del
ENST00000446542.5:n.270_274del (NPPA-AS1)
NR_037806.1:n.968_972del (NPPA-AS1)