Canonical Allele Identifier: CA1153832208

Gene: CLCN6 NPPA-AS1 NPPA

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11847284_11847286delinsATC , CM000663.2:g.11847284_11847286delinsATC	GRCh38
NC_000001.10:g.11907341_11907343delinsATC , CM000663.1:g.11907341_11907343delinsATC	GRCh37
NC_000001.9:g.11829928_11829930delinsATC	NCBI36
NG_012926.1:g.5498_5500delinsGAT , LRG_751:g.5498_5500delinsGAT

Transcript Alleles

HGVS	Amino-acid change
ENST00000400892.3:c.*1962-293_*1962-291delinsATC (CLCN6)	ENSP00000496938.1:n.*1962-293_*1962-291de...
ENST00000446542.5:n.782-150_782-148delinsATC (NPPA-AS1)
ENST00000376476.1:c.127_129delinsGAT (NPPA)	ENSP00000365659.1:p.Asp43=
ENST00000376480.7:c.277_279delinsGAT (NPPA) MANE Select	ENSP00000365663.3:p.Asp93=
ENST00000610706.1:c.277_279delinsGAT (NPPA)	ENSP00000483195.1:p.Asp93=
NM_006172.3:c.277_279delinsGAT , LRG_751t1:c.277_279delinsGAT (NPPA)	NP_006163.1:p.Asp93=
NR_037806.1:n.1480-150_1480-148delinsATC (NPPA-AS1)
NM_006172.4:c.277_279delinsGAT (NPPA) MANE Select	NP_006163.1:p.Asp93=