Canonical Allele Identifier: CA521195777

Gene: CLCN6 NPPA-AS1 NPPA

Linked Data

• dbSNP Id: rs1192137704
• gnomAD v2: 1-11906988-TAAGCA-T
• gnomAD v3: 1-11846931-TAAGCA-T
• gnomAD v4: 1-11846931-TAAGCA-T
• MyVariant Identifiers: chr1:g.11906989_11906993del (hg19) ; chr1:g.11846932_11846936del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11846932_11846936del , CM000663.2:g.11846932_11846936del	GRCh38
NC_000001.10:g.11906989_11906993del , CM000663.1:g.11906989_11906993del	GRCh37
NC_000001.9:g.11829576_11829580del	NCBI36
NG_012926.1:g.5848_5852del , LRG_751:g.5848_5852del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000400892.3:c.*1962-645_*1962-641del (CLCN6)	ENSP00000496938.1:n.*1962-645_*1962-641del
ENST00000446542.5:n.782-502_782-498del (NPPA-AS1)
ENST00000376476.1:c.300+177_300+181del (NPPA)	ENSP00000365659.1:n.300+177_300+181del
ENST00000376480.7:c.450+177_450+181del (NPPA) MANE Select	ENSP00000365663.3:n.450+177_450+181del
ENST00000610706.1:c.450+177_450+181del (NPPA)	ENSP00000483195.1:n.450+177_450+181del
NM_006172.3:c.450+177_450+181del , LRG_751t1:c.450+177_450+181del (NPPA)	NP_006163.1:n.450+177_450+181del
NR_037806.1:n.1480-502_1480-498del (NPPA-AS1)
NM_006172.4:c.450+177_450+181del (NPPA) MANE Select	NP_006163.1:n.450+177_450+181del