Canonical Allele Identifier: CA1140726989

Gene: CLCN6 NPPA-AS1 NPPA

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11847031_11847035delinsCTTCT , CM000663.2:g.11847031_11847035delinsCTTCT	GRCh38
NC_000001.10:g.11907088_11907092delinsCTTCT , CM000663.1:g.11907088_11907092delinsCTTCT	GRCh37
NC_000001.9:g.11829675_11829679delinsCTTCT	NCBI36
NG_012926.1:g.5749_5753delinsAGAAG , LRG_751:g.5749_5753delinsAGAAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000400892.3:c.*1962-546_*1962-542delinsCTTCT (CLCN6)	ENSP00000496938.1:n.*1962-546_*1962-542delinsCTTCT
ENST00000446542.5:n.782-403_782-399delinsCTTCT (NPPA-AS1)
ENST00000376476.1:c.300+78_300+82delinsAGAAG (NPPA)	ENSP00000365659.1:n.300+78_300+82delinsAGAAG
ENST00000376480.7:c.450+78_450+82delinsAGAAG (NPPA) MANE Select	ENSP00000365663.3:n.450+78_450+82delinsAGAAG
ENST00000610706.1:c.450+78_450+82delinsAGAAG (NPPA)	ENSP00000483195.1:n.450+78_450+82delinsAGAAG
NM_006172.3:c.450+78_450+82delinsAGAAG , LRG_751t1:c.450+78_450+82delinsAGAAG (NPPA)	NP_006163.1:n.450+78_450+82delinsAGAAG
NR_037806.1:n.1480-403_1480-399delinsCTTCT (NPPA-AS1)
NM_006172.4:c.450+78_450+82delinsAGAAG (NPPA) MANE Select	NP_006163.1:n.450+78_450+82delinsAGAAG