Canonical Allele Identifier: CA1153831812

Gene: CLCN6 NPPA-AS1 NPPA

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11847111_11847112delinsAC , CM000663.2:g.11847111_11847112delinsAC	GRCh38
NC_000001.10:g.11907168_11907169delinsAC , CM000663.1:g.11907168_11907169delinsAC	GRCh37
NC_000001.9:g.11829755_11829756delinsAC	NCBI36
NG_012926.1:g.5672_5673delinsGT , LRG_751:g.5672_5673delinsGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000400892.3:c.*1962-466_*1962-465delinsAC (CLCN6)	ENSP00000496938.1:n.*1962-466_*1962-465delinsAC
ENST00000446542.5:n.782-323_782-322delinsAC (NPPA-AS1)
ENST00000376476.1:c.300+1_300+2delinsGT (NPPA)	ENSP00000365659.1:n.300+1_300+2delinsGT
ENST00000376480.7:c.450+1_450+2delinsGT (NPPA) MANE Select	ENSP00000365663.3:n.450+1_450+2delinsGT
ENST00000610706.1:c.450+1_450+2delinsGT (NPPA)	ENSP00000483195.1:n.450+1_450+2delinsGT
NM_006172.3:c.450+1_450+2delinsGT , LRG_751t1:c.450+1_450+2delinsGT (NPPA)	NP_006163.1:n.450+1_450+2delinsGT
NR_037806.1:n.1480-323_1480-322delinsAC (NPPA-AS1)
NM_006172.4:c.450+1_450+2delinsGT (NPPA) MANE Select	NP_006163.1:n.450+1_450+2delinsGT