Canonical Allele Identifier: CA2580611133

Gene: CLCN6 NPPA-AS1 NPPA

Linked Data

• ClinVar Variation Id: 1973676
• ClinVar RCV Id: RCV002736179
• gnomAD v4: 1-11847398-ATCT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11847402_11847404del , CM000663.2:g.11847402_11847404del	GRCh38
NC_000001.10:g.11907459_11907461del , CM000663.1:g.11907459_11907461del	GRCh37
NC_000001.9:g.11830046_11830048del	NCBI36
NG_012926.1:g.5383_5385del , LRG_751:g.5383_5385del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000400892.3:c.*1962-175_*1962-173del (CLCN6)	ENSP00000496938.1:n.*1962-175_*1962-173del
ENST00000446542.5:n.782-32_782-30del (NPPA-AS1)
ENST00000376476.1:c.12_14del (NPPA)	ENSP00000365659.1:p.Glu4del
ENST00000376480.7:c.162_164del (NPPA) MANE Select	ENSP00000365663.3:p.Glu54del
ENST00000610706.1:c.162_164del (NPPA)	ENSP00000483195.1:p.Glu54del
NM_006172.3:c.162_164del , LRG_751t1:c.162_164del (NPPA)	NP_006163.1:p.Glu54del
NR_037806.1:n.1480-32_1480-30del (NPPA-AS1)
NM_006172.4:c.162_164del (NPPA) MANE Select	NP_006163.1:p.Glu54del