Canonical Allele Identifier: CA1153827598
Gene: CLCN6 HGNC NCBI
NPPA-AS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.11843851_11843854delinsCAGA , CM000663.2:g.11843851_11843854delinsCAGA GRCh38
NC_000001.10:g.11903908_11903911delinsCAGA , CM000663.1:g.11903908_11903911delinsCAGA GRCh37
NC_000001.9:g.11826495_11826498delinsCAGA NCBI36
NG_008766.1:g.42702_42705delinsCAGA
NG_012926.1:g.8930_8933delinsTCTG , LRG_751:g.8930_8933delinsTCTG

Transcript Alleles

HGVS Amino-acid Change
ENST00000400892.3:c.*1519_*1522delinsCAGA (CLCN6) ENSP00000496938.1:n.*1519_*1522delinsCAGA
ENST00000446542.5:n.339_342delinsCAGA (NPPA-AS1)
NR_037806.1:n.1037_1040delinsCAGA (NPPA-AS1)