Canonical Allele Identifier: CA886104631

Gene: CLCN6 NPPA-AS1 NPPA

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11845994_11845995insAGG , CM000663.2:g.11845994_11845995insAGG	GRCh38
NC_000001.10:g.11906051_11906052insAGG , CM000663.1:g.11906051_11906052insAGG	GRCh37
NC_000001.9:g.11828638_11828639insAGG	NCBI36
NG_012926.1:g.6789_6790insCCT , LRG_751:g.6789_6790insCCT

Transcript Alleles

HGVS	Amino-acid Change
NM_006172.4:c.*14_*15insCCT (NPPA) MANE Select	NP_006163.1:n.*14_*15insCCT
ENST00000376480.7:c.*14_*15insCCT (NPPA) MANE Select	ENSP00000365663.3:n.*14_*15insCCT
NM_006172.3:c.*14_*15insCCT , LRG_751t1:c.*14_*15insCCT (NPPA)	NP_006163.1:n.*14_*15insCCT
NR_037806.1:n.1479+228_1479+229insAGG (NPPA-AS1)
ENST00000376476.1:c.*14_*15insCCT (NPPA)	ENSP00000365659.1:n.*14_*15insCCT
ENST00000400892.3:c.*1961+228_*1961+229insAGG (CLCN6)	ENSP00000496938.1:n.*1961+228_*1961+229insAGG
ENST00000446542.5:n.781+228_781+229insAGG (NPPA-AS1)
ENST00000610706.1:c.*8_*9insCCT (NPPA)	ENSP00000483195.1:n.*8_*9insCCT