Canonical Allele Identifier: CA18010491
Gene: CLCN6 HGNC NCBI
NPPA-AS1 HGNC NCBI
NPPA HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.11847033_11847035dup , CM000663.2:g.11847033_11847035dup GRCh38
NC_000001.10:g.11907090_11907092dup , CM000663.1:g.11907090_11907092dup GRCh37
NC_000001.9:g.11829677_11829679dup NCBI36
NG_012926.1:g.5751_5753dup , LRG_751:g.5751_5753dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000400892.3:c.*1962-544_*1962-542dup (CLCN6) ENSP00000496938.1:n.*1962-544_*1962-542dup
ENST00000446542.5:n.782-401_782-399dup (NPPA-AS1)
ENST00000376476.1:c.300+80_300+82dup (NPPA) ENSP00000365659.1:n.300+80_300+82dup
ENST00000376480.7:c.450+80_450+82dup (NPPA) MANE Select ENSP00000365663.3:n.450+80_450+82dup
ENST00000610706.1:c.450+80_450+82dup (NPPA) ENSP00000483195.1:n.450+80_450+82dup
NM_006172.3:c.450+80_450+82dup , LRG_751t1:c.450+80_450+82dup (NPPA) NP_006163.1:n.450+80_450+82dup
NR_037806.1:n.1480-401_1480-399dup (NPPA-AS1)
NM_006172.4:c.450+80_450+82dup (NPPA) MANE Select NP_006163.1:n.450+80_450+82dup
Search 100 bp 5'
Search 100 bp 3'