Canonical Allele Identifier: CA1153831678

Gene: CLCN6 NPPA-AS1 NPPA

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11847017_11847022delinsTGAGAG , CM000663.2:g.11847017_11847022delinsTGAGAG	GRCh38
NC_000001.10:g.11907074_11907079delinsTGAGAG , CM000663.1:g.11907074_11907079delinsTGAGAG	GRCh37
NC_000001.9:g.11829661_11829666delinsTGAGAG	NCBI36
NG_012926.1:g.5762_5767delinsCTCTCA , LRG_751:g.5762_5767delinsCTCTCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000400892.3:c.*1962-560_*1962-555delinsTGAGAG (CLCN6)	ENSP00000496938.1:n.*1962-560_*1962-555delinsTGAGAG
ENST00000446542.5:n.782-417_782-412delinsTGAGAG (NPPA-AS1)
ENST00000376476.1:c.300+91_300+96delinsCTCTCA (NPPA)	ENSP00000365659.1:n.300+91_300+96delinsCTCTCA
ENST00000376480.7:c.450+91_450+96delinsCTCTCA (NPPA) MANE Select	ENSP00000365663.3:n.450+91_450+96delinsCTCTCA
ENST00000610706.1:c.450+91_450+96delinsCTCTCA (NPPA)	ENSP00000483195.1:n.450+91_450+96delinsCTCTCA
NM_006172.3:c.450+91_450+96delinsCTCTCA , LRG_751t1:c.450+91_450+96delinsCTCTCA (NPPA)	NP_006163.1:n.450+91_450+96delinsCTCTCA
NR_037806.1:n.1480-417_1480-412delinsTGAGAG (NPPA-AS1)
NM_006172.4:c.450+91_450+96delinsCTCTCA (NPPA) MANE Select	NP_006163.1:n.450+91_450+96delinsCTCTCA