Canonical Allele Identifier: CA521455469

Gene: CLCN6 NPPA-AS1 NPPA

Linked Data

• dbSNP Id: rs1454410704
• gnomAD v2: 1-11907400-GAGC-G
• gnomAD v3: 1-11847343-GAGC-G
• gnomAD v4: 1-11847343-GAGC-G
• MyVariant Identifiers: chr1:g.11907401_11907403del (hg19) ; chr1:g.11847344_11847346del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11847347_11847349del , CM000663.2:g.11847347_11847349del	GRCh38
NC_000001.10:g.11907404_11907406del , CM000663.1:g.11907404_11907406del	GRCh37
NC_000001.9:g.11829991_11829993del	NCBI36
NG_012926.1:g.5438_5440del , LRG_751:g.5438_5440del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000400892.3:c.*1962-230_*1962-228del (CLCN6)	ENSP00000496938.1:n.*1962-230_*1962-228del
ENST00000446542.5:n.782-87_782-85del (NPPA-AS1)
ENST00000376476.1:c.67_69del (NPPA)	ENSP00000365659.1:p.Ala23del
ENST00000376480.7:c.217_219del (NPPA) MANE Select	ENSP00000365663.3:p.Ala73del
ENST00000610706.1:c.217_219del (NPPA)	ENSP00000483195.1:p.Ala73del
NM_006172.3:c.217_219del , LRG_751t1:c.217_219del (NPPA)	NP_006163.1:p.Ala73del
NR_037806.1:n.1480-87_1480-85del (NPPA-AS1)
NM_006172.4:c.217_219del (NPPA) MANE Select	NP_006163.1:p.Ala73del