Canonical Allele Identifier: CA1153830376

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.11846237_11846238delinsAG , CM000663.2:g.11846237_11846238delinsAG GRCh38
NC_000001.10:g.11906294_11906295delinsAG , CM000663.1:g.11906294_11906295delinsAG GRCh37
NC_000001.9:g.11828881_11828882delinsAG NCBI36
NG_012926.1:g.6546_6547delinsCT , LRG_751:g.6546_6547delinsCT

Transcript Alleles

HGVS Amino-acid change
ENST00000400892.3:c.*1961+471_*1961+472delinsAG (CLCN6) ENSP00000496938.1:n.*1961+471_*1961+472de...
ENST00000446542.5:n.781+471_781+472delinsAG (NPPA-AS1)
ENST00000376476.1:c.301-224_301-223delinsCT (NPPA) ENSP00000365659.1:n.301-224_301-223delins...
ENST00000376480.7:c.451-224_451-223delinsCT (NPPA) MANE Select ENSP00000365663.3:n.451-224_451-223delins...
ENST00000610706.1:c.451-224_451-223delinsCT (NPPA) ENSP00000483195.1:n.451-224_451-223delins...
NM_006172.3:c.451-224_451-223delinsCT , LRG_751t1:c.451-224_451-223delinsCT (NPPA) NP_006163.1:n.451-224_451-223delinsCT
NR_037806.1:n.1479+471_1479+472delinsAG (NPPA-AS1)
NM_006172.4:c.451-224_451-223delinsCT (NPPA) MANE Select NP_006163.1:n.451-224_451-223delinsCT