Canonical Allele Identifier: CA916109092
Gene: CLCN6 HGNC NCBI
NPPA-AS1 HGNC NCBI

Linked Data

dbSNP Id: rs1570549670

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.11843934del , CM000663.2:g.11843934del GRCh38
NC_000001.10:g.11903991del , CM000663.1:g.11903991del GRCh37
NC_000001.9:g.11826578del NCBI36
NG_008766.1:g.42785del
NG_012926.1:g.8850del , LRG_751:g.8850del

Transcript Alleles

HGVS Amino-acid change
ENST00000400892.3:c.*1602del (CLCN6) ENSP00000496938.1:n.*1602del
ENST00000446542.5:n.422del (NPPA-AS1)
NR_037806.1:n.1120del (NPPA-AS1)