Canonical Allele Identifier: CA1153829889
Gene: CLCN6 HGNC NCBI
NPPA-AS1 HGNC NCBI
NPPA HGNC NCBI

Linked Data

dbSNP Id: rs1645063739
gnomAD v4: 1-11845754-C-CT
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.11845757dup , CM000663.2:g.11845757dup GRCh38
NC_000001.10:g.11905814dup , CM000663.1:g.11905814dup GRCh37
NC_000001.9:g.11828401dup NCBI36
NG_012926.1:g.7029dup , LRG_751:g.7029dup

Transcript Alleles

HGVS Amino-acid change
ENST00000400892.3:c.*1952dup (CLCN6) ENSP00000496938.1:n.*1952dup
ENST00000446542.5:n.772dup (NPPA-AS1)
ENST00000376480.7:c.*254dup (NPPA) MANE Select ENSP00000365663.3:n.*254dup
ENST00000610706.1:c.*248dup (NPPA) ENSP00000483195.1:n.*248dup
NM_006172.3:c.*254dup , LRG_751t1:c.*254dup (NPPA) NP_006163.1:n.*254dup
NR_037806.1:n.1470dup (NPPA-AS1)
NM_006172.4:c.*254dup (NPPA) MANE Select NP_006163.1:n.*254dup
Search 100 bp 5'
Search 100 bp 3'