Canonical Allele Identifier: CA886104692

Gene: CLCN6 NPPA-AS1 NPPA

Linked Data - Variant Effect Evidence

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11846080_11846083dup , CM000663.2:g.11846080_11846083dup	GRCh38
NC_000001.10:g.11906137_11906140dup , CM000663.1:g.11906137_11906140dup	GRCh37
NC_000001.9:g.11828724_11828727dup	NCBI36
NG_012926.1:g.6704_6707dup , LRG_751:g.6704_6707dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000400892.3:c.*1961+314_*1961+317dup (CLCN6)	ENSP00000496938.1:n.*1961+314_*1961+317dup
ENST00000446542.5:n.781+314_781+317dup (NPPA-AS1)
ENST00000376476.1:c.301-66_301-63dup (NPPA)	ENSP00000365659.1:n.301-66_301-63dup
ENST00000376480.7:c.451-66_451-63dup (NPPA) MANE Select	ENSP00000365663.3:n.451-66_451-63dup
ENST00000610706.1:c.451-66_451-63dup (NPPA)	ENSP00000483195.1:n.451-66_451-63dup
NM_006172.3:c.451-66_451-63dup , LRG_751t1:c.451-66_451-63dup (NPPA)	NP_006163.1:n.451-66_451-63dup
NR_037806.1:n.1479+314_1479+317dup (NPPA-AS1)
NM_006172.4:c.451-66_451-63dup (NPPA) MANE Select	NP_006163.1:n.451-66_451-63dup