Canonical Allele Identifier: CA1153832310

Gene: CLCN6 NPPA-AS1 NPPA

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11847333_11847334delinsAG , CM000663.2:g.11847333_11847334delinsAG	GRCh38
NC_000001.10:g.11907390_11907391delinsAG , CM000663.1:g.11907390_11907391delinsAG	GRCh37
NC_000001.9:g.11829977_11829978delinsAG	NCBI36
NG_012926.1:g.5450_5451delinsCT , LRG_751:g.5450_5451delinsCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000400892.3:c.*1962-244_*1962-243delinsAG (CLCN6)	ENSP00000496938.1:n.*1962-244_*1962-243delinsAG
ENST00000446542.5:n.782-101_782-100delinsAG (NPPA-AS1)
ENST00000376476.1:c.79_80delinsCT (NPPA)	ENSP00000365659.1:p.Leu27=
ENST00000376480.7:c.229_230delinsCT (NPPA) MANE Select	ENSP00000365663.3:p.Leu77=
ENST00000610706.1:c.229_230delinsCT (NPPA)	ENSP00000483195.1:p.Leu77=
NM_006172.3:c.229_230delinsCT , LRG_751t1:c.229_230delinsCT (NPPA)	NP_006163.1:p.Leu77=
NR_037806.1:n.1480-101_1480-100delinsAG (NPPA-AS1)
NM_006172.4:c.229_230delinsCT (NPPA) MANE Select	NP_006163.1:p.Leu77=