Canonical Allele Identifier: CA998632541

Gene: CLCN6 NPPA-AS1 NPPA

Linked Data

• gnomAD v3: 1-11846936-A-ATTT
• gnomAD v4: 1-11846936-A-ATTT

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11846938_11846940dup , CM000663.2:g.11846938_11846940dup	GRCh38
NC_000001.10:g.11906995_11906997dup , CM000663.1:g.11906995_11906997dup	GRCh37
NC_000001.9:g.11829582_11829584dup	NCBI36
NG_012926.1:g.5845_5847dup , LRG_751:g.5845_5847dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000400892.3:c.*1962-639_*1962-637dup (CLCN6)	ENSP00000496938.1:n.*1962-639_*1962-637dup
ENST00000446542.5:n.782-496_782-494dup (NPPA-AS1)
ENST00000376476.1:c.300+174_300+176dup (NPPA)	ENSP00000365659.1:n.300+174_300+176dup
ENST00000376480.7:c.450+174_450+176dup (NPPA) MANE Select	ENSP00000365663.3:n.450+174_450+176dup
ENST00000610706.1:c.450+174_450+176dup (NPPA)	ENSP00000483195.1:n.450+174_450+176dup
NM_006172.3:c.450+174_450+176dup , LRG_751t1:c.450+174_450+176dup (NPPA)	NP_006163.1:n.450+174_450+176dup
NR_037806.1:n.1480-496_1480-494dup (NPPA-AS1)
NM_006172.4:c.450+174_450+176dup (NPPA) MANE Select	NP_006163.1:n.450+174_450+176dup