Canonical Allele Identifier: CA351496
Gene: NALCN HGNC NCBI

Linked Data

ClinVar Variation Id: 88686
ClinVar RCV Id: RCV000074369 RCV000414660
dbSNP Id: rs869025188
MyVariant Identifiers: chr13:g.101881881del (hg19) chr13:g.101229530del (hg38)
PubMed: PMID:24075186
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.101229530del , CM000675.2:g.101229530del GRCh38
NC_000013.10:g.101881881del , CM000675.1:g.101881881del GRCh37
NC_000013.9:g.100679882del NCBI36
NG_053176.1:g.192677del

Transcript Alleles

HGVS Amino-acid change
ENST00000251127.11:c.1489del MANE Select ENSP00000251127.6:p.Tyr497ThrfsTer21
ENST00000648359.1:c.1489del ENSP00000497465.1:p.Tyr497ThrfsTer21
ENST00000674840.1:n.1587del
ENST00000674904.1:n.1569del
ENST00000675150.1:c.1489del ENSP00000502680.1:p.Tyr497ThrfsTer21
ENST00000675332.1:c.1489del ENSP00000501955.1:p.Tyr497ThrfsTer21
ENST00000675594.1:c.*926del ENSP00000502490.1:n.*926del
ENST00000675802.1:c.1489del ENSP00000501818.1:p.Tyr497ThrfsTer21
ENST00000676315.1:c.1402del ENSP00000501603.1:p.Tyr468ThrfsTer21
ENST00000676439.1:n.1663del
ENST00000251127.10:c.1489del ENSP00000251127.6:p.Tyr497ThrfsTer21
ENST00000470333.1:n.1585del
ENST00000497170.5:n.1643del
NM_052867.2:c.1489del NP_443099.1:p.Tyr497ThrfsTer21
XM_011521067.1:c.1546del XP_011519369.1:p.Tyr516ThrfsTer21
XM_011521068.1:c.1489del XP_011519370.1:p.Tyr497ThrfsTer21
XM_011521069.1:c.1459del XP_011519371.1:p.Tyr487ThrfsTer21
XM_011521070.1:c.1546del XP_011519372.1:p.Tyr516ThrfsTer21
NM_001350748.1:c.1489del NP_001337677.1:p.Tyr497ThrfsTer21
NM_001350749.1:c.1489del NP_001337678.1:p.Tyr497ThrfsTer21
NM_001350750.1:c.1402del NP_001337679.1:p.Tyr468ThrfsTer21
NM_001350751.1:c.1402del NP_001337680.1:p.Tyr468ThrfsTer21
NM_052867.3:c.1489del NP_443099.1:p.Tyr497ThrfsTer21
XM_011521067.2:c.1546del XP_011519369.1:p.Tyr516ThrfsTer21
XM_011521069.2:c.1459del XP_011519371.1:p.Tyr487ThrfsTer21
XM_017020536.2:c.1042del XP_016876025.1:p.Tyr348ThrfsTer21
XM_017020537.1:c.724del XP_016876026.1:p.Tyr242ThrfsTer21
XM_024449336.1:c.1546del XP_024305104.1:p.Tyr516ThrfsTer21
NM_052867.4:c.1489del MANE Select NP_443099.1:p.Tyr497ThrfsTer21
NM_001350748.2:c.1489del NP_001337677.1:p.Tyr497ThrfsTer21
NM_001350749.2:c.1489del NP_001337678.1:p.Tyr497ThrfsTer21
NM_001350750.2:c.1402del NP_001337679.1:p.Tyr468ThrfsTer21
NM_001350751.2:c.1402del NP_001337680.1:p.Tyr468ThrfsTer21
Search 100 bp 5'
Search 100 bp 3'