Canonical Allele Identifier: CA886104973

Gene: CLCN6 NPPA-AS1 NPPA

Linked Data

• dbSNP Id: rs1217845092
• gnomAD v3: 1-11846919-C-CG
• gnomAD v4: 1-11846919-C-CG
• MyVariant Identifiers: chr1:g.11906976_11906977insG (hg19) ; chr1:g.11846919_11846920insG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11846919_11846920insG , CM000663.2:g.11846919_11846920insG	GRCh38
NC_000001.10:g.11906976_11906977insG , CM000663.1:g.11906976_11906977insG	GRCh37
NC_000001.9:g.11829563_11829564insG	NCBI36
NG_012926.1:g.5864_5865insC , LRG_751:g.5864_5865insC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000400892.3:c.*1962-658_*1962-657insG (CLCN6)	ENSP00000496938.1:n.*1962-658_*1962-657insG
ENST00000446542.5:n.782-515_782-514insG (NPPA-AS1)
ENST00000376476.1:c.300+193_300+194insC (NPPA)	ENSP00000365659.1:n.300+193_300+194insC
ENST00000376480.7:c.450+193_450+194insC (NPPA) MANE Select	ENSP00000365663.3:n.450+193_450+194insC
ENST00000610706.1:c.450+193_450+194insC (NPPA)	ENSP00000483195.1:n.450+193_450+194insC
NM_006172.3:c.450+193_450+194insC , LRG_751t1:c.450+193_450+194insC (NPPA)	NP_006163.1:n.450+193_450+194insC
NR_037806.1:n.1480-515_1480-514insG (NPPA-AS1)
NM_006172.4:c.450+193_450+194insC (NPPA) MANE Select	NP_006163.1:n.450+193_450+194insC