Canonical Allele Identifier: CA1153829941
Gene: CLCN6 HGNC NCBI
NPPA-AS1 HGNC NCBI
NPPA HGNC NCBI

Linked Data

dbSNP Id: rs1645064609
gnomAD v4: 1-11845816-G-GTC
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.11845817_11845818dup , CM000663.2:g.11845817_11845818dup GRCh38
NC_000001.10:g.11905874_11905875dup , CM000663.1:g.11905874_11905875dup GRCh37
NC_000001.9:g.11828461_11828462dup NCBI36
NG_012926.1:g.6966_6967dup , LRG_751:g.6966_6967dup

Transcript Alleles

HGVS Amino-acid change
ENST00000400892.3:c.*1961+51_*1961+52dup (CLCN6) ENSP00000496938.1:n.*1961+51_*1961+52dup
ENST00000446542.5:n.781+51_781+52dup (NPPA-AS1)
ENST00000376480.7:c.*191_*192dup (NPPA) MANE Select ENSP00000365663.3:n.*191_*192dup
ENST00000610706.1:c.*185_*186dup (NPPA) ENSP00000483195.1:n.*185_*186dup
NM_006172.3:c.*191_*192dup , LRG_751t1:c.*191_*192dup (NPPA) NP_006163.1:n.*191_*192dup
NR_037806.1:n.1479+51_1479+52dup (NPPA-AS1)
NM_006172.4:c.*191_*192dup (NPPA) MANE Select NP_006163.1:n.*191_*192dup
Search 100 bp 5'
Search 100 bp 3'