Canonical Allele Identifier: CA521195763
Gene: CLCN6 HGNC NCBI
NPPA-AS1 HGNC NCBI
NPPA HGNC NCBI

Linked Data

dbSNP Id: rs67372226
gnomAD v2: 1-11906968-G-GCC
gnomAD v3: 1-11846911-G-GCC
gnomAD v4: 1-11846911-G-GCC
MyVariant Identifiers: chr1:g.11906970_11906971insCC (hg19) chr1:g.11906968_11906969insCC (hg19) chr1:g.11846913_11846914insCC (hg38) chr1:g.11846911_11846912insCC (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.11846920_11846921dup , CM000663.2:g.11846920_11846921dup GRCh38
NC_000001.10:g.11906977_11906978dup , CM000663.1:g.11906977_11906978dup GRCh37
NC_000001.9:g.11829564_11829565dup NCBI36
NG_012926.1:g.5871_5872dup , LRG_751:g.5871_5872dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000400892.3:c.*1962-657_*1962-656dup (CLCN6) ENSP00000496938.1:n.*1962-657_*1962-656dup
ENST00000446542.5:n.782-514_782-513dup (NPPA-AS1)
ENST00000376476.1:c.300+200_300+201dup (NPPA) ENSP00000365659.1:n.300+200_300+201dup
ENST00000376480.7:c.450+200_450+201dup (NPPA) MANE Select ENSP00000365663.3:n.450+200_450+201dup
ENST00000610706.1:c.450+200_450+201dup (NPPA) ENSP00000483195.1:n.450+200_450+201dup
NM_006172.3:c.450+200_450+201dup , LRG_751t1:c.450+200_450+201dup (NPPA) NP_006163.1:n.450+200_450+201dup
NR_037806.1:n.1480-514_1480-513dup (NPPA-AS1)
NM_006172.4:c.450+200_450+201dup (NPPA) MANE Select NP_006163.1:n.450+200_450+201dup
Search 100 bp 5'
Search 100 bp 3'