Canonical Allele Identifier: CA1153827466
Gene: CLCN6 HGNC NCBI
NPPA-AS1 HGNC NCBI

Linked Data

dbSNP Id: rs1645051117

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.11843783_11843784del , CM000663.2:g.11843783_11843784del GRCh38
NC_000001.10:g.11903840_11903841del , CM000663.1:g.11903840_11903841del GRCh37
NC_000001.9:g.11826427_11826428del NCBI36
NG_008766.1:g.42634_42635del
NG_012926.1:g.9002_9003del , LRG_751:g.9002_9003del

Transcript Alleles

HGVS Amino-acid Change
ENST00000400892.3:c.*1451_*1452del (CLCN6) ENSP00000496938.1:n.*1451_*1452del
ENST00000446542.5:n.271_272del (NPPA-AS1)
NR_037806.1:n.969_970del (NPPA-AS1)