Canonical Allele Identifier: CA2742482484

Gene: CLCN6 NPPA-AS1 NPPA

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11846930_11846932del , CM000663.2:g.11846930_11846932del	GRCh38
NC_000001.10:g.11906987_11906989del , CM000663.1:g.11906987_11906989del	GRCh37
NC_000001.9:g.11829574_11829576del	NCBI36
NG_012926.1:g.5852_5854del , LRG_751:g.5852_5854del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000400892.3:c.*1962-647_*1962-645del (CLCN6)	ENSP00000496938.1:n.*1962-647_*1962-645del
ENST00000446542.5:n.782-504_782-502del (NPPA-AS1)
ENST00000376476.1:c.300+181_300+183del (NPPA)	ENSP00000365659.1:n.300+181_300+183del
ENST00000376480.7:c.450+181_450+183del (NPPA) MANE Select	ENSP00000365663.3:n.450+181_450+183del
ENST00000610706.1:c.450+181_450+183del (NPPA)	ENSP00000483195.1:n.450+181_450+183del
NM_006172.3:c.450+181_450+183del , LRG_751t1:c.450+181_450+183del (NPPA)	NP_006163.1:n.450+181_450+183del
NR_037806.1:n.1480-504_1480-502del (NPPA-AS1)
NM_006172.4:c.450+181_450+183del (NPPA) MANE Select	NP_006163.1:n.450+181_450+183del