Canonical Allele Identifier: CA597130
Gene: CLCN6 HGNC NCBI
NPPA-AS1 HGNC NCBI
NPPA HGNC NCBI

Linked Data

ClinVar Variation Id: 842219
ClinVar RCV Id: RCV001044604
dbSNP Id: rs760300711
ExAC: 1:11907717 CGGT / C
gnomAD v2: 1-11907717-CGGT-C
gnomAD v3: 1-11847660-CGGT-C
gnomAD v4: 1-11847660-CGGT-C
MyVariant Identifiers: chr1:g.11907718_11907720del (hg19) chr1:g.11847661_11847663del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.11847669_11847671del , CM000663.2:g.11847669_11847671del GRCh38
NC_000001.10:g.11907726_11907728del , CM000663.1:g.11907726_11907728del GRCh37
NC_000001.9:g.11830313_11830315del NCBI36
NG_012926.1:g.5121_5123del , LRG_751:g.5121_5123del

Transcript Alleles

HGVS Amino-acid Change
ENST00000400892.3:c.*2054_*2056del (CLCN6) ENSP00000496938.1:n.*2054_*2056del
ENST00000446542.5:n.1017_1019del (NPPA-AS1)
ENST00000376476.1:c.-27-224_-27-222del (NPPA) ENSP00000365659.1:n.-27-224_-27-222del
ENST00000376480.7:c.22_24del (NPPA) MANE Select ENSP00000365663.3:p.Thr8del
ENST00000610706.1:c.22_24del (NPPA) ENSP00000483195.1:p.Thr8del
NM_006172.3:c.22_24del , LRG_751t1:c.22_24del (NPPA) NP_006163.1:p.Thr8del
NM_006172.4:c.22_24del (NPPA) MANE Select NP_006163.1:p.Thr8del
Search 100 bp 5'
Search 100 bp 3'