Canonical Allele Identifier: CA2643311777

Gene: CLCN6 NPPA-AS1 NPPA

Linked Data

• gnomAD v4: 1-11847222-TTGCTTTTTAGGAGGGCAGA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11847224_11847242del , CM000663.2:g.11847224_11847242del	GRCh38
NC_000001.10:g.11907281_11907299del , CM000663.1:g.11907281_11907299del	GRCh37
NC_000001.9:g.11829868_11829886del	NCBI36
NG_012926.1:g.5543_5561del , LRG_751:g.5543_5561del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000400892.3:c.*1962-353_*1962-335del (CLCN6)	ENSP00000496938.1:n.*1962-353_*1962-335del
ENST00000446542.5:n.782-210_782-192del (NPPA-AS1)
ENST00000376476.1:c.172_190del (NPPA)	ENSP00000365659.1:p.Ala59Ter
ENST00000376480.7:c.322_340del (NPPA) MANE Select	ENSP00000365663.3:p.Ala109Ter
ENST00000610706.1:c.322_340del (NPPA)	ENSP00000483195.1:p.Ala109Ter
NM_006172.3:c.322_340del , LRG_751t1:c.322_340del (NPPA)	NP_006163.1:p.Ala109Ter
NR_037806.1:n.1480-210_1480-192del (NPPA-AS1)
NM_006172.4:c.322_340del (NPPA) MANE Select	NP_006163.1:p.Ala109Ter