Canonical Allele Identifier: CA1153814113

Gene: CLCN6 NPPA-AS1 NPPA

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11847660_11847663delinsCGGT , CM000663.2:g.11847660_11847663delinsCGGT	GRCh38
NC_000001.10:g.11907717_11907720delinsCGGT , CM000663.1:g.11907717_11907720delinsCGGT	GRCh37
NC_000001.9:g.11830304_11830307delinsCGGT	NCBI36
NG_012926.1:g.5121_5124delinsACCG , LRG_751:g.5121_5124delinsACCG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000400892.3:c.*2045_*2048delinsCGGT (CLCN6)	ENSP00000496938.1:n.*2045_*2048delinsCGGT
ENST00000446542.5:n.1008_1011delinsCGGT (NPPA-AS1)
ENST00000376476.1:c.-27-224_-27-221delinsACCG (NPPA)	ENSP00000365659.1:n.-27-224_-27-221delinsACCG
ENST00000376480.7:c.22_25delinsACCG (NPPA) MANE Select	ENSP00000365663.3:p.Thr8=
ENST00000610706.1:c.22_25delinsACCG (NPPA)	ENSP00000483195.1:p.Thr8=
NM_006172.3:c.22_25delinsACCG , LRG_751t1:c.22_25delinsACCG (NPPA)	NP_006163.1:p.Thr8=
NM_006172.4:c.22_25delinsACCG (NPPA) MANE Select	NP_006163.1:p.Thr8=