Canonical Allele Identifier: CA2991004742

Gene: CLCN6 NPPA-AS1 NPPA

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11845932_11845933del , CM000663.2:g.11845932_11845933del	GRCh38
NC_000001.10:g.11905989_11905990del , CM000663.1:g.11905989_11905990del	GRCh37
NC_000001.9:g.11828576_11828577del	NCBI36
NG_012926.1:g.6851_6852del , LRG_751:g.6851_6852del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000400892.3:c.*1961+166_*1961+167del (CLCN6)	ENSP00000496938.1:n.*1961+166_*1961+167del
ENST00000446542.5:n.781+166_781+167del (NPPA-AS1)
ENST00000376476.1:c.*76_*77del (NPPA)	ENSP00000365659.1:n.*76_*77del
ENST00000376480.7:c.*76_*77del (NPPA) MANE Select	ENSP00000365663.3:n.*76_*77del
ENST00000610706.1:c.*70_*71del (NPPA)	ENSP00000483195.1:n.*70_*71del
NM_006172.3:c.*76_*77del , LRG_751t1:c.*76_*77del (NPPA)	NP_006163.1:n.*76_*77del
NR_037806.1:n.1479+166_1479+167del (NPPA-AS1)
NM_006172.4:c.*76_*77del (NPPA) MANE Select	NP_006163.1:n.*76_*77del