Canonical Allele Identifier: CA18009968
Gene: CLCN6 HGNC NCBI
NPPA-AS1 HGNC NCBI
NPPA HGNC NCBI

Linked Data

ClinVar Variation Id: 1276720
ClinVar RCV Id: RCV001687912
dbSNP Id: rs63749086
gnomAD v2: 1-11905797-TCACTTTCAAAC-T
gnomAD v3: 1-11845740-TCACTTTCAAAC-T
gnomAD v4: 1-11845740-TCACTTTCAAAC-T
COSMIC: COSN20094323 COSN20094324
MyVariant Identifiers: chr1:g.11905798_11905808del (hg19) chr1:g.11845741_11845751del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.11845749_11845759del , CM000663.2:g.11845749_11845759del GRCh38
NC_000001.10:g.11905806_11905816del , CM000663.1:g.11905806_11905816del GRCh37
NC_000001.9:g.11828393_11828403del NCBI36
NG_012926.1:g.7033_7043del , LRG_751:g.7033_7043del

Transcript Alleles

HGVS Amino-acid change
ENST00000400892.3:c.*1944_*1954del (CLCN6) ENSP00000496938.1:n.*1944_*1954del
ENST00000446542.5:n.764_774del (NPPA-AS1)
ENST00000376480.7:c.*258_*268del (NPPA) MANE Select ENSP00000365663.3:n.*258_*268del
ENST00000610706.1:c.*252_*262del (NPPA) ENSP00000483195.1:n.*252_*262del
NM_006172.3:c.*258_*268del , LRG_751t1:c.*258_*268del (NPPA) NP_006163.1:n.*258_*268del
NR_037806.1:n.1462_1472del (NPPA-AS1)
NM_006172.4:c.*258_*268del (NPPA) MANE Select NP_006163.1:n.*258_*268del
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Search 100 bp 3'