Canonical Allele Identifier: CA2643311268

Gene: CLCN6 NPPA-AS1 NPPA

Linked Data

• gnomAD v4: 1-11846124-TCCCACCGGCC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11846131_11846140del , CM000663.2:g.11846131_11846140del	GRCh38
NC_000001.10:g.11906188_11906197del , CM000663.1:g.11906188_11906197del	GRCh37
NC_000001.9:g.11828775_11828784del	NCBI36
NG_012926.1:g.6650_6659del , LRG_751:g.6650_6659del

Transcript Alleles

HGVS	Amino-acid change
ENST00000400892.3:c.*1961+365_*1961+374del (CLCN6)	ENSP00000496938.1:n.*1961+365_*1961+374de...
ENST00000446542.5:n.781+365_781+374del (NPPA-AS1)
ENST00000376476.1:c.301-120_301-111del (NPPA)	ENSP00000365659.1:n.301-120_301-111del
ENST00000376480.7:c.451-120_451-111del (NPPA) MANE Select	ENSP00000365663.3:n.451-120_451-111del
ENST00000610706.1:c.451-120_451-111del (NPPA)	ENSP00000483195.1:n.451-120_451-111del
NM_006172.3:c.451-120_451-111del , LRG_751t1:c.451-120_451-111del (NPPA)	NP_006163.1:n.451-120_451-111del
NR_037806.1:n.1479+365_1479+374del (NPPA-AS1)
NM_006172.4:c.451-120_451-111del (NPPA) MANE Select	NP_006163.1:n.451-120_451-111del