Canonical Allele Identifier: CA1153827523
Gene: CLCN6 HGNC NCBI
NPPA-AS1 HGNC NCBI

Linked Data

dbSNP Id: rs1645051225

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.11843800_11843802del , CM000663.2:g.11843800_11843802del GRCh38
NC_000001.10:g.11903857_11903859del , CM000663.1:g.11903857_11903859del GRCh37
NC_000001.9:g.11826444_11826446del NCBI36
NG_008766.1:g.42651_42653del
NG_012926.1:g.8985_8987del , LRG_751:g.8985_8987del

Transcript Alleles

HGVS Amino-acid Change
ENST00000400892.3:c.*1468_*1470del (CLCN6) ENSP00000496938.1:n.*1468_*1470del
ENST00000446542.5:n.288_290del (NPPA-AS1)
NR_037806.1:n.986_988del (NPPA-AS1)