Canonical Allele Identifier: CA1153830259

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.11846132_11846133delinsGC , CM000663.2:g.11846132_11846133delinsGC GRCh38
NC_000001.10:g.11906189_11906190delinsGC , CM000663.1:g.11906189_11906190delinsGC GRCh37
NC_000001.9:g.11828776_11828777delinsGC NCBI36
NG_012926.1:g.6651_6652delinsGC , LRG_751:g.6651_6652delinsGC

Transcript Alleles

HGVS Amino-acid change
ENST00000400892.3:c.*1961+366_*1961+367delinsGC (CLCN6) ENSP00000496938.1:n.*1961+366_*1961+367de...
ENST00000446542.5:n.781+366_781+367delinsGC (NPPA-AS1)
ENST00000376476.1:c.301-119_301-118delinsGC (NPPA) ENSP00000365659.1:n.301-119_301-118delins...
ENST00000376480.7:c.451-119_451-118delinsGC (NPPA) MANE Select ENSP00000365663.3:n.451-119_451-118delins...
ENST00000610706.1:c.451-119_451-118delinsGC (NPPA) ENSP00000483195.1:n.451-119_451-118delins...
NM_006172.3:c.451-119_451-118delinsGC , LRG_751t1:c.451-119_451-118delinsGC (NPPA) NP_006163.1:n.451-119_451-118delinsGC
NR_037806.1:n.1479+366_1479+367delinsGC (NPPA-AS1)
NM_006172.4:c.451-119_451-118delinsGC (NPPA) MANE Select NP_006163.1:n.451-119_451-118delinsGC