Canonical Allele Identifier: CA3038324756

Gene: CLCN6 NPPA-AS1 NPPA

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11845845_11845846insTCTGGCTTGGTGACCTGGCTGTCCTG , CM000663.2:g.11845845_11845846insTCTGGCTTGGTGACCTGGCTGTCCTG	GRCh38
NC_000001.10:g.11905902_11905903insTCTGGCTTGGTGACCTGGCTGTCCTG , CM000663.1:g.11905902_11905903insTCTGGCTTGGTGACCTGGCTGTCCTG	GRCh37
NC_000001.9:g.11828489_11828490insTCTGGCTTGGTGACCTGGCTGTCCTG	NCBI36
NG_012926.1:g.6938_6939insCAGGACAGCCAGGTCACCAAGCCAGA , LRG_751:g.6938_6939insCAGGACAGCCAGGTCACCAAGCCAGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000400892.3:c.*1961+79_*1961+80insTCTGGCTTGGTGACCTGGCTGTCCTG (CLCN6)	ENSP00000496938.1:n.*1961+79_*1961+80insTCTGGCTTGGTGACCTGGCTG...
ENST00000446542.5:n.781+79_781+80insTCTGGCTTGGTGACCTGGCTGTCCTG (NPPA-AS1)
ENST00000376480.7:c.*163_*164insCAGGACAGCCAGGTCACCAAGCCAGA (NPPA) MANE Select	ENSP00000365663.3:n.*163_*164insCAGGACAGCCAGGTCACCAAGCCAGA
ENST00000610706.1:c.*157_*158insCAGGACAGCCAGGTCACCAAGCCAGA (NPPA)	ENSP00000483195.1:n.*157_*158insCAGGACAGCCAGGTCACCAAGCCAGA
NM_006172.3:c.*163_*164insCAGGACAGCCAGGTCACCAAGCCAGA , LRG_751t1:c.*163_*164insCAGGACAGCCAGGTCACCAAGCCAGA (NPPA)	NP_006163.1:n.*163_*164insCAGGACAGCCAGGTCACCAAGCCAGA
NR_037806.1:n.1479+79_1479+80insTCTGGCTTGGTGACCTGGCTGTCCTG (NPPA-AS1)
NM_006172.4:c.*163_*164insCAGGACAGCCAGGTCACCAAGCCAGA (NPPA) MANE Select	NP_006163.1:n.*163_*164insCAGGACAGCCAGGTCACCAAGCCAGA