Canonical Allele Identifier: CA2643312083

Gene: CLCN6 NPPA-AS1 NPPA

Linked Data

• gnomAD v4: 1-11847383-TGG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11847387_11847388del , CM000663.2:g.11847387_11847388del	GRCh38
NC_000001.10:g.11907444_11907445del , CM000663.1:g.11907444_11907445del	GRCh37
NC_000001.9:g.11830031_11830032del	NCBI36
NG_012926.1:g.5399_5400del , LRG_751:g.5399_5400del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000400892.3:c.*1962-190_*1962-189del (CLCN6)	ENSP00000496938.1:n.*1962-190_*1962-189del
ENST00000446542.5:n.782-47_782-46del (NPPA-AS1)
ENST00000376476.1:c.28_29del (NPPA)	ENSP00000365659.1:p.Pro10ThrfsTer5
ENST00000376480.7:c.178_179del (NPPA) MANE Select	ENSP00000365663.3:p.Pro60ThrfsTer5
ENST00000610706.1:c.178_179del (NPPA)	ENSP00000483195.1:p.Pro60ThrfsTer5
NM_006172.3:c.178_179del , LRG_751t1:c.178_179del (NPPA)	NP_006163.1:p.Pro60ThrfsTer5
NR_037806.1:n.1480-47_1480-46del (NPPA-AS1)
NM_006172.4:c.178_179del (NPPA) MANE Select	NP_006163.1:p.Pro60ThrfsTer5