Canonical Allele Identifier: CA886104919
Gene: CLCN6 HGNC NCBI
NPPA-AS1 HGNC NCBI
NPPA HGNC NCBI

Linked Data

dbSNP Id: rs1438122151
MyVariant Identifiers: chr1:g.11906806_11906807del (hg19) chr1:g.11846749_11846750del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.11846752_11846753del , CM000663.2:g.11846752_11846753del GRCh38
NC_000001.10:g.11906809_11906810del , CM000663.1:g.11906809_11906810del GRCh37
NC_000001.9:g.11829396_11829397del NCBI36
NG_012926.1:g.6034_6035del , LRG_751:g.6034_6035del

Transcript Alleles

HGVS Amino-acid Change
ENST00000400892.3:c.*1962-825_*1962-824del (CLCN6) ENSP00000496938.1:n.*1962-825_*1962-824del
ENST00000446542.5:n.782-682_782-681del (NPPA-AS1)
ENST00000376476.1:c.300+363_300+364del (NPPA) ENSP00000365659.1:n.300+363_300+364del
ENST00000376480.7:c.450+363_450+364del (NPPA) MANE Select ENSP00000365663.3:n.450+363_450+364del
ENST00000610706.1:c.450+363_450+364del (NPPA) ENSP00000483195.1:n.450+363_450+364del
NM_006172.3:c.450+363_450+364del , LRG_751t1:c.450+363_450+364del (NPPA) NP_006163.1:n.450+363_450+364del
NR_037806.1:n.1480-682_1480-681del (NPPA-AS1)
NM_006172.4:c.450+363_450+364del (NPPA) MANE Select NP_006163.1:n.450+363_450+364del
Search 100 bp 5'
Search 100 bp 3'