Canonical Allele Identifier: CA2643312002

Gene: CLCN6 NPPA-AS1 NPPA

Linked Data

• gnomAD v4: 1-11847349-C-CT

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11847349_11847350insT , CM000663.2:g.11847349_11847350insT	GRCh38
NC_000001.10:g.11907406_11907407insT , CM000663.1:g.11907406_11907407insT	GRCh37
NC_000001.9:g.11829993_11829994insT	NCBI36
NG_012926.1:g.5434_5435insA , LRG_751:g.5434_5435insA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000400892.3:c.*1962-228_*1962-227insT (CLCN6)	ENSP00000496938.1:n.*1962-228_*1962-227insT
ENST00000446542.5:n.782-85_782-84insT (NPPA-AS1)
ENST00000376476.1:c.63_64insA (NPPA)	ENSP00000365659.1:p.Ala22SerfsTer8
ENST00000376480.7:c.213_214insA (NPPA) MANE Select	ENSP00000365663.3:p.Ala72SerfsTer8
ENST00000610706.1:c.213_214insA (NPPA)	ENSP00000483195.1:p.Ala72SerfsTer8
NM_006172.3:c.213_214insA , LRG_751t1:c.213_214insA (NPPA)	NP_006163.1:p.Ala72SerfsTer8
NR_037806.1:n.1480-85_1480-84insT (NPPA-AS1)
NM_006172.4:c.213_214insA (NPPA) MANE Select	NP_006163.1:p.Ala72SerfsTer8