Canonical Allele Identifier: CA2742482428

Gene: CLCN6 NPPA-AS1 NPPA

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11846134_11846135insAGCA , CM000663.2:g.11846134_11846135insAGCA	GRCh38
NC_000001.10:g.11906191_11906192insAGCA , CM000663.1:g.11906191_11906192insAGCA	GRCh37
NC_000001.9:g.11828778_11828779insAGCA	NCBI36
NG_012926.1:g.6649_6650insTGCT , LRG_751:g.6649_6650insTGCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000400892.3:c.*1961+368_*1961+369insAGCA (CLCN6)	ENSP00000496938.1:n.*1961+368_*1961+369insAGCA
ENST00000446542.5:n.781+368_781+369insAGCA (NPPA-AS1)
ENST00000376476.1:c.301-121_301-120insTGCT (NPPA)	ENSP00000365659.1:n.301-121_301-120insTGCT
ENST00000376480.7:c.451-121_451-120insTGCT (NPPA) MANE Select	ENSP00000365663.3:n.451-121_451-120insTGCT
ENST00000610706.1:c.451-121_451-120insTGCT (NPPA)	ENSP00000483195.1:n.451-121_451-120insTGCT
NM_006172.3:c.451-121_451-120insTGCT , LRG_751t1:c.451-121_451-120insTGCT (NPPA)	NP_006163.1:n.451-121_451-120insTGCT
NR_037806.1:n.1479+368_1479+369insAGCA (NPPA-AS1)
NM_006172.4:c.451-121_451-120insTGCT (NPPA) MANE Select	NP_006163.1:n.451-121_451-120insTGCT