Canonical Allele Identifier: CA2643311983

Gene: CLCN6 NPPA-AS1 NPPA

Linked Data

• gnomAD v4: 1-11847340-TGAGAGCA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11847342_11847348del , CM000663.2:g.11847342_11847348del	GRCh38
NC_000001.10:g.11907399_11907405del , CM000663.1:g.11907399_11907405del	GRCh37
NC_000001.9:g.11829986_11829992del	NCBI36
NG_012926.1:g.5437_5443del , LRG_751:g.5437_5443del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000400892.3:c.*1962-235_*1962-229del (CLCN6)	ENSP00000496938.1:n.*1962-235_*1962-229del
ENST00000446542.5:n.782-92_782-86del (NPPA-AS1)
ENST00000376476.1:c.66_72del (NPPA)	ENSP00000365659.1:p.Leu24ProfsTer?
ENST00000376480.7:c.216_222del (NPPA) MANE Select	ENSP00000365663.3:p.Leu74ProfsTer?
ENST00000610706.1:c.216_222del (NPPA)	ENSP00000483195.1:p.Leu74ProfsTer?
NM_006172.3:c.216_222del , LRG_751t1:c.216_222del (NPPA)	NP_006163.1:p.Leu74ProfsTer?
NR_037806.1:n.1480-92_1480-86del (NPPA-AS1)
NM_006172.4:c.216_222del (NPPA) MANE Select	NP_006163.1:p.Leu74ProfsTer?