Canonical Allele Identifier: CA998631319

Gene: CLCN6 NPPA-AS1 NPPA

Linked Data

• dbSNP Id: rs1645066689
• gnomAD v3: 1-11846089-GC-G
• gnomAD v4: 1-11846089-GC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11846092del , CM000663.2:g.11846092del	GRCh38
NC_000001.10:g.11906149del , CM000663.1:g.11906149del	GRCh37
NC_000001.9:g.11828736del	NCBI36
NG_012926.1:g.6694del , LRG_751:g.6694del

Transcript Alleles

HGVS	Amino-acid change
ENST00000400892.3:c.*1961+326del (CLCN6)	ENSP00000496938.1:n.*1961+326del
ENST00000446542.5:n.781+326del (NPPA-AS1)
ENST00000376476.1:c.301-76del (NPPA)	ENSP00000365659.1:n.301-76del
ENST00000376480.7:c.451-76del (NPPA) MANE Select	ENSP00000365663.3:n.451-76del
ENST00000610706.1:c.451-76del (NPPA)	ENSP00000483195.1:n.451-76del
NM_006172.3:c.451-76del , LRG_751t1:c.451-76del (NPPA)	NP_006163.1:n.451-76del
NR_037806.1:n.1479+326del (NPPA-AS1)
NM_006172.4:c.451-76del (NPPA) MANE Select	NP_006163.1:n.451-76del