Canonical Allele Identifier: CA2643310999

Gene: CLCN6 NPPA-AS1 NPPA

Linked Data

• gnomAD v4: 1-11845888-TGGGA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11845889_11845892del , CM000663.2:g.11845889_11845892del	GRCh38
NC_000001.10:g.11905946_11905949del , CM000663.1:g.11905946_11905949del	GRCh37
NC_000001.9:g.11828533_11828536del	NCBI36
NG_012926.1:g.6892_6895del , LRG_751:g.6892_6895del

Transcript Alleles

HGVS	Amino-acid change
ENST00000400892.3:c.*1961+123_*1961+126del (CLCN6)	ENSP00000496938.1:n.*1961+123_*1961+126de...
ENST00000446542.5:n.781+123_781+126del (NPPA-AS1)
ENST00000376476.1:c.*117_*120del (NPPA)	ENSP00000365659.1:n.*117_*120del
ENST00000376480.7:c.*117_*120del (NPPA) MANE Select	ENSP00000365663.3:n.*117_*120del
ENST00000610706.1:c.*111_*114del (NPPA)	ENSP00000483195.1:n.*111_*114del
NM_006172.3:c.*117_*120del , LRG_751t1:c.*117_*120del (NPPA)	NP_006163.1:n.*117_*120del
NR_037806.1:n.1479+123_1479+126del (NPPA-AS1)
NM_006172.4:c.*117_*120del (NPPA) MANE Select	NP_006163.1:n.*117_*120del