Canonical Allele Identifier: CA1153827948

Gene: CLCN6 NPPA-AS1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11844120_11844126delinsATCAGTT , CM000663.2:g.11844120_11844126delinsATCAGTT	GRCh38
NC_000001.10:g.11904177_11904183delinsATCAGTT , CM000663.1:g.11904177_11904183delinsATCAGTT	GRCh37
NC_000001.9:g.11826764_11826770delinsATCAGTT	NCBI36
NG_008766.1:g.42971_42977delinsATCAGTT
NG_012926.1:g.8658_8664delinsAACTGAT , LRG_751:g.8658_8664delinsAACTGAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000400892.3:c.*1741+47_*1741+53delinsATCAGTT (CLCN6)	ENSP00000496938.1:n.*1741+47_*1741+53delinsATCAGTT
ENST00000446542.5:n.561+47_561+53delinsATCAGTT (NPPA-AS1)
NR_037806.1:n.1259+47_1259+53delinsATCAGTT (NPPA-AS1)