Canonical Allele Identifier: CA597041

Linked Data

dbSNP Id: rs774165756

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.11847290_11847291del , CM000663.2:g.11847290_11847291del GRCh38
NC_000001.10:g.11907347_11907348del , CM000663.1:g.11907347_11907348del GRCh37
NC_000001.9:g.11829934_11829935del NCBI36
NG_012926.1:g.5498_5499del , LRG_751:g.5498_5499del

Transcript Alleles

HGVS Amino-acid change
ENST00000400892.3:c.*1962-287_*1962-286del (CLCN6) ENSP00000496938.1:n.*1962-287_*1962-286de...
ENST00000446542.5:n.782-144_782-143del (NPPA-AS1)
ENST00000376476.1:c.127_128del (NPPA) ENSP00000365659.1:p.Asp43TrpfsTer13
ENST00000376480.7:c.277_278del (NPPA) MANE Select ENSP00000365663.3:p.Asp93TrpfsTer13
ENST00000610706.1:c.277_278del (NPPA) ENSP00000483195.1:p.Asp93TrpfsTer13
NM_006172.3:c.277_278del , LRG_751t1:c.277_278del (NPPA) NP_006163.1:p.Asp93TrpfsTer13
NR_037806.1:n.1480-144_1480-143del (NPPA-AS1)
NM_006172.4:c.277_278del (NPPA) MANE Select NP_006163.1:p.Asp93TrpfsTer13