Canonical Allele Identifier: CA2742482420

Gene: CLCN6 NPPA-AS1 NPPA

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11846015_11846016insCGGAAGC , CM000663.2:g.11846015_11846016insCGGAAGC	GRCh38
NC_000001.10:g.11906072_11906073insCGGAAGC , CM000663.1:g.11906072_11906073insCGGAAGC	GRCh37
NC_000001.9:g.11828659_11828660insCGGAAGC	NCBI36
NG_012926.1:g.6769_6770insCTTCCGG , LRG_751:g.6769_6770insCTTCCGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000400892.3:c.*1961+249_*1961+250insCGGAAGC (CLCN6)	ENSP00000496938.1:n.*1961+249_*1961+250insCGGAAGC
ENST00000446542.5:n.781+249_781+250insCGGAAGC (NPPA-AS1)
ENST00000376476.1:c.301-1_301insCTTCCGG (NPPA)	ENSP00000365659.1:n.301-1_301insCTTCCGG
ENST00000376480.7:c.451-1_451insCTTCCGG (NPPA) MANE Select	ENSP00000365663.3:n.451-1_451insCTTCCGG
ENST00000610706.1:c.451-1_451insCTTCCGG (NPPA)	ENSP00000483195.1:n.451-1_451insCTTCCGG
NM_006172.3:c.451-1_451insCTTCCGG , LRG_751t1:c.451-1_451insCTTCCGG (NPPA)	NP_006163.1:n.451-1_451insCTTCCGG
NR_037806.1:n.1479+249_1479+250insCGGAAGC (NPPA-AS1)
NM_006172.4:c.451-1_451insCTTCCGG (NPPA) MANE Select	NP_006163.1:n.451-1_451insCTTCCGG