Canonical Allele Identifier: CA2643310587
Gene: CLCN6 HGNC NCBI
NPPA-AS1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.11845640_11845641del , CM000663.2:g.11845640_11845641del GRCh38
NC_000001.10:g.11905697_11905698del , CM000663.1:g.11905697_11905698del GRCh37
NC_000001.9:g.11828284_11828285del NCBI36
NG_012926.1:g.7145_7146del , LRG_751:g.7145_7146del

Transcript Alleles

HGVS Amino-acid Change
ENST00000400892.3:c.*1835_*1836del (CLCN6) ENSP00000496938.1:n.*1835_*1836del
ENST00000446542.5:n.655_656del (NPPA-AS1)
NR_037806.1:n.1353_1354del (NPPA-AS1)