Canonical Allele Identifier: CA2643311202

Gene: CLCN6 NPPA-AS1 NPPA

Linked Data

• gnomAD v4: 1-11846025-A-AACACAGACATATCTGGCTTGGTG

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11846028_11846050dup , CM000663.2:g.11846028_11846050dup	GRCh38
NC_000001.10:g.11906085_11906107dup , CM000663.1:g.11906085_11906107dup	GRCh37
NC_000001.9:g.11828672_11828694dup	NCBI36
NG_012926.1:g.6736_6758dup , LRG_751:g.6736_6758dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000400892.3:c.*1961+262_*1961+284dup (CLCN6)	ENSP00000496938.1:n.*1961+262_*1961+284du...
ENST00000446542.5:n.781+262_781+284dup (NPPA-AS1)
ENST00000376476.1:c.301-34_301-12dup (NPPA)	ENSP00000365659.1:n.301-34_301-12dup
ENST00000376480.7:c.451-34_451-12dup (NPPA) MANE Select	ENSP00000365663.3:n.451-34_451-12dup
ENST00000610706.1:c.451-34_451-12dup (NPPA)	ENSP00000483195.1:n.451-34_451-12dup
NM_006172.3:c.451-34_451-12dup , LRG_751t1:c.451-34_451-12dup (NPPA)	NP_006163.1:n.451-34_451-12dup
NR_037806.1:n.1479+262_1479+284dup (NPPA-AS1)
NM_006172.4:c.451-34_451-12dup (NPPA) MANE Select	NP_006163.1:n.451-34_451-12dup