Canonical Allele Identifier: CA1153827716

Gene: CLCN6 NPPA-AS1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11843943_11843944delinsCT , CM000663.2:g.11843943_11843944delinsCT	GRCh38
NC_000001.10:g.11904000_11904001delinsCT , CM000663.1:g.11904000_11904001delinsCT	GRCh37
NC_000001.9:g.11826587_11826588delinsCT	NCBI36
NG_008766.1:g.42794_42795delinsCT
NG_012926.1:g.8840_8841delinsAG , LRG_751:g.8840_8841delinsAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000400892.3:c.*1611_*1612delinsCT (CLCN6)	ENSP00000496938.1:n.*1611_*1612delinsCT
ENST00000446542.5:n.431_432delinsCT (NPPA-AS1)
NR_037806.1:n.1129_1130delinsCT (NPPA-AS1)