Canonical Allele Identifier: CA2574215401

Gene: CLCN6 NPPA-AS1 NPPA

Linked Data

• gnomAD v4: 1-11847591-C-CGGCATTGTACAT

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11847594_11847605dup , CM000663.2:g.11847594_11847605dup	GRCh38
NC_000001.10:g.11907651_11907662dup , CM000663.1:g.11907651_11907662dup	GRCh37
NC_000001.9:g.11830238_11830249dup	NCBI36
NG_012926.1:g.5181_5192dup , LRG_751:g.5181_5192dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000400892.3:c.*1979_*1990dup (CLCN6)	ENSP00000496938.1:n.*1979_*1990dup
ENST00000446542.5:n.942_953dup (NPPA-AS1)
ENST00000376476.1:c.-27-164_-27-153dup (NPPA)	ENSP00000365659.1:n.-27-164_-27-153dup
ENST00000376480.7:c.82_93dup (NPPA) MANE Select	ENSP00000365663.3:p.Ala31_Val32insMetTyrAsnAla
ENST00000610706.1:c.82_93dup (NPPA)	ENSP00000483195.1:p.Ala31_Val32insMetTyrAsnAla
NM_006172.3:c.82_93dup , LRG_751t1:c.82_93dup (NPPA)	NP_006163.1:p.Ala31_Val32insMetTyrAsnAla
NR_037806.1:n.1640_1651dup (NPPA-AS1)
NM_006172.4:c.82_93dup (NPPA) MANE Select	NP_006163.1:p.Ala31_Val32insMetTyrAsnAla