Canonical Allele Identifier: CA1153830222

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.11846089_11846090delinsGC , CM000663.2:g.11846089_11846090delinsGC GRCh38
NC_000001.10:g.11906146_11906147delinsGC , CM000663.1:g.11906146_11906147delinsGC GRCh37
NC_000001.9:g.11828733_11828734delinsGC NCBI36
NG_012926.1:g.6694_6695delinsGC , LRG_751:g.6694_6695delinsGC

Transcript Alleles

HGVS Amino-acid change
ENST00000400892.3:c.*1961+323_*1961+324delinsGC (CLCN6) ENSP00000496938.1:n.*1961+323_*1961+324de...
ENST00000446542.5:n.781+323_781+324delinsGC (NPPA-AS1)
ENST00000376476.1:c.301-76_301-75delinsGC (NPPA) ENSP00000365659.1:n.301-76_301-75delinsGC...
ENST00000376480.7:c.451-76_451-75delinsGC (NPPA) MANE Select ENSP00000365663.3:n.451-76_451-75delinsGC...
ENST00000610706.1:c.451-76_451-75delinsGC (NPPA) ENSP00000483195.1:n.451-76_451-75delinsGC...
NM_006172.3:c.451-76_451-75delinsGC , LRG_751t1:c.451-76_451-75delinsGC (NPPA) NP_006163.1:n.451-76_451-75delinsGC
NR_037806.1:n.1479+323_1479+324delinsGC (NPPA-AS1)
NM_006172.4:c.451-76_451-75delinsGC (NPPA) MANE Select NP_006163.1:n.451-76_451-75delinsGC