Canonical Allele Identifier: CA1153831179
Gene: CLCN6 HGNC NCBI
NPPA-AS1 HGNC NCBI
NPPA HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.11846702_11846703delinsGC , CM000663.2:g.11846702_11846703delinsGC GRCh38
NC_000001.10:g.11906759_11906760delinsGC , CM000663.1:g.11906759_11906760delinsGC GRCh37
NC_000001.9:g.11829346_11829347delinsGC NCBI36
NG_012926.1:g.6081_6082delinsGC , LRG_751:g.6081_6082delinsGC

Transcript Alleles

HGVS Amino-acid Change
ENST00000400892.3:c.*1962-875_*1962-874delinsGC (CLCN6) ENSP00000496938.1:n.*1962-875_*1962-874delinsGC
ENST00000446542.5:n.782-732_782-731delinsGC (NPPA-AS1)
ENST00000376476.1:c.300+410_300+411delinsGC (NPPA) ENSP00000365659.1:n.300+410_300+411delinsGC
ENST00000376480.7:c.450+410_450+411delinsGC (NPPA) MANE Select ENSP00000365663.3:n.450+410_450+411delinsGC
ENST00000610706.1:c.450+410_450+411delinsGC (NPPA) ENSP00000483195.1:n.450+410_450+411delinsGC
NM_006172.3:c.450+410_450+411delinsGC , LRG_751t1:c.450+410_450+411delinsGC (NPPA) NP_006163.1:n.450+410_450+411delinsGC
NR_037806.1:n.1480-732_1480-731delinsGC (NPPA-AS1)
NM_006172.4:c.450+410_450+411delinsGC (NPPA) MANE Select NP_006163.1:n.450+410_450+411delinsGC
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