Canonical Allele Identifier: CA891842425

Gene: CLCN6 NPPA-AS1 NPPA

Linked Data

• ClinVar Variation Id: 573319
• ClinVar RCV Id: RCV000694965
• dbSNP Id: rs1557442938
• MyVariant Identifiers: chr1:g.11907393_11907401del (hg19) ; chr1:g.11847336_11847344del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11847337_11847345del , CM000663.2:g.11847337_11847345del	GRCh38
NC_000001.10:g.11907394_11907402del , CM000663.1:g.11907394_11907402del	GRCh37
NC_000001.9:g.11829981_11829989del	NCBI36
NG_012926.1:g.5440_5448del , LRG_751:g.5440_5448del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000400892.3:c.*1962-240_*1962-232del (CLCN6)	ENSP00000496938.1:n.*1962-240_*1962-232del
ENST00000446542.5:n.782-97_782-89del (NPPA-AS1)
ENST00000376476.1:c.69_77del (NPPA)	ENSP00000365659.1:p.Leu24_Pro26del
ENST00000376480.7:c.219_227del (NPPA) MANE Select	ENSP00000365663.3:p.Leu74_Pro76del
ENST00000610706.1:c.219_227del (NPPA)	ENSP00000483195.1:p.Leu74_Pro76del
NM_006172.3:c.219_227del , LRG_751t1:c.219_227del (NPPA)	NP_006163.1:p.Leu74_Pro76del
NR_037806.1:n.1480-97_1480-89del (NPPA-AS1)
NM_006172.4:c.219_227del (NPPA) MANE Select	NP_006163.1:p.Leu74_Pro76del