Canonical Allele Identifier: CA2742482429

Gene: CLCN6 NPPA-AS1 NPPA

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11846136_11846137insAAACA , CM000663.2:g.11846136_11846137insAAACA	GRCh38
NC_000001.10:g.11906193_11906194insAAACA , CM000663.1:g.11906193_11906194insAAACA	GRCh37
NC_000001.9:g.11828780_11828781insAAACA	NCBI36
NG_012926.1:g.6647_6648insTGTTT , LRG_751:g.6647_6648insTGTTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000400892.3:c.*1961+370_*1961+371insAAACA (CLCN6)	ENSP00000496938.1:n.*1961+370_*1961+371insAAACA
ENST00000446542.5:n.781+370_781+371insAAACA (NPPA-AS1)
ENST00000376476.1:c.301-123_301-122insTGTTT (NPPA)	ENSP00000365659.1:n.301-123_301-122insTGTTT
ENST00000376480.7:c.451-123_451-122insTGTTT (NPPA) MANE Select	ENSP00000365663.3:n.451-123_451-122insTGTTT
ENST00000610706.1:c.451-123_451-122insTGTTT (NPPA)	ENSP00000483195.1:n.451-123_451-122insTGTTT
NM_006172.3:c.451-123_451-122insTGTTT , LRG_751t1:c.451-123_451-122insTGTTT (NPPA)	NP_006163.1:n.451-123_451-122insTGTTT
NR_037806.1:n.1479+370_1479+371insAAACA (NPPA-AS1)
NM_006172.4:c.451-123_451-122insTGTTT (NPPA) MANE Select	NP_006163.1:n.451-123_451-122insTGTTT