Canonical Allele Identifier: CA521455502

Gene: CLCN6 NPPA-AS1 NPPA

Linked Data

• dbSNP Id: rs1366810289
• gnomAD v2: 1-11907703-AAGG-A
• gnomAD v4: 1-11847646-AAGG-A
• MyVariant Identifiers: chr1:g.11907704_11907706del (hg19) ; chr1:g.11847647_11847649del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11847651_11847653del , CM000663.2:g.11847651_11847653del	GRCh38
NC_000001.10:g.11907708_11907710del , CM000663.1:g.11907708_11907710del	GRCh37
NC_000001.9:g.11830295_11830297del	NCBI36
NG_012926.1:g.5135_5137del , LRG_751:g.5135_5137del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000400892.3:c.*2036_*2038del (CLCN6)	ENSP00000496938.1:n.*2036_*2038del
ENST00000446542.5:n.999_1001del (NPPA-AS1)
ENST00000376476.1:c.-27-210_-27-208del (NPPA)	ENSP00000365659.1:n.-27-210_-27-208del
ENST00000376480.7:c.36_38del (NPPA) MANE Select	ENSP00000365663.3:p.Leu13del
ENST00000610706.1:c.36_38del (NPPA)	ENSP00000483195.1:p.Leu13del
NM_006172.3:c.36_38del , LRG_751t1:c.36_38del (NPPA)	NP_006163.1:p.Leu13del
NM_006172.4:c.36_38del (NPPA) MANE Select	NP_006163.1:p.Leu13del