Canonical Allele Identifier: CA916109096
Gene: CLCN6 HGNC NCBI
NPPA-AS1 HGNC NCBI
NPPA HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.11846066_11846067del , CM000663.2:g.11846066_11846067del GRCh38
NC_000001.10:g.11906123_11906124del , CM000663.1:g.11906123_11906124del GRCh37
NC_000001.9:g.11828710_11828711del NCBI36
NG_012926.1:g.6719_6720del , LRG_751:g.6719_6720del

Transcript Alleles

HGVS Amino-acid Change
ENST00000400892.3:c.*1961+300_*1961+301del (CLCN6) ENSP00000496938.1:n.*1961+300_*1961+301del
ENST00000446542.5:n.781+300_781+301del (NPPA-AS1)
ENST00000376476.1:c.301-51_301-50del (NPPA) ENSP00000365659.1:n.301-51_301-50del
ENST00000376480.7:c.451-51_451-50del (NPPA) MANE Select ENSP00000365663.3:n.451-51_451-50del
ENST00000610706.1:c.451-51_451-50del (NPPA) ENSP00000483195.1:n.451-51_451-50del
NM_006172.3:c.451-51_451-50del , LRG_751t1:c.451-51_451-50del (NPPA) NP_006163.1:n.451-51_451-50del
NR_037806.1:n.1479+300_1479+301del (NPPA-AS1)
NM_006172.4:c.451-51_451-50del (NPPA) MANE Select NP_006163.1:n.451-51_451-50del
Search 100 bp 5'
Search 100 bp 3'