Canonical Allele Identifier: CA1153827520
Gene: CLCN6 HGNC NCBI
NPPA-AS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.11843796_11843799delinsTTTC , CM000663.2:g.11843796_11843799delinsTTTC GRCh38
NC_000001.10:g.11903853_11903856delinsTTTC , CM000663.1:g.11903853_11903856delinsTTTC GRCh37
NC_000001.9:g.11826440_11826443delinsTTTC NCBI36
NG_008766.1:g.42647_42650delinsTTTC
NG_012926.1:g.8985_8988delinsGAAA , LRG_751:g.8985_8988delinsGAAA

Transcript Alleles

HGVS Amino-acid Change
ENST00000400892.3:c.*1464_*1467delinsTTTC (CLCN6) ENSP00000496938.1:n.*1464_*1467delinsTTTC
ENST00000446542.5:n.284_287delinsTTTC (NPPA-AS1)
NR_037806.1:n.982_985delinsTTTC (NPPA-AS1)