Canonical Allele Identifier: CA2500342279
Gene: CLCN6 HGNC NCBI
NPPA-AS1 HGNC NCBI
NPPA HGNC NCBI
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.11847493_11847494insAGATGCCTT , CM000663.2:g.11847493_11847494insAGATGCCTT GRCh38
NC_000001.10:g.11907550_11907551insAGATGCCTT , CM000663.1:g.11907550_11907551insAGATGCCTT GRCh37
NC_000001.9:g.11830137_11830138insAGATGCCTT NCBI36
NG_012926.1:g.5290_5291insAAGGCATCT , LRG_751:g.5290_5291insAAGGCATCT

Transcript Alleles

HGVS Amino-acid change
ENST00000400892.3:c.*1962-84_*1962-83insAGATGCCTT (CLCN6) ENSP00000496938.1:n.*1962-84_*1962-83insA...
ENST00000446542.5:n.841_842insAGATGCCTT (NPPA-AS1)
ENST00000376476.1:c.-27-55_-27-54insAAGGCATCT (NPPA) ENSP00000365659.1:n.-27-55_-27-54insAAGGC...
ENST00000376480.7:c.124-55_124-54insAAGGCATCT (NPPA) MANE Select ENSP00000365663.3:n.124-55_124-54insAAGGC...
ENST00000610706.1:c.124-55_124-54insAAGGCATCT (NPPA) ENSP00000483195.1:n.124-55_124-54insAAGGC...
NM_006172.3:c.124-55_124-54insAAGGCATCT , LRG_751t1:c.124-55_124-54insAAGGCATCT (NPPA) NP_006163.1:n.124-55_124-54insAAGGCATCT
NR_037806.1:n.1539_1540insAGATGCCTT (NPPA-AS1)
NM_006172.4:c.124-55_124-54insAAGGCATCT (NPPA) MANE Select NP_006163.1:n.124-55_124-54insAAGGCATCT
Search 100 bp 5'
Search 100 bp 3'