Canonical Allele Identifier: CA2623578240
Gene: NALCN HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.101081395_101081396insTGAGGCTATTGTTTTTTGTGAATTCTTCGATAATGGCCCATTTGGGCAAAAAGCCGGTTAGCGGGGGCAGGCCTCCT , CM000675.2:g.101081395_101081396insTGAGGCTATTGTTTTTTGTGAATTCTTCGATAATGGCCCATTTGGGCAAAAAGCCGGTTAGCGGGGGCAGGCCTCCT GRCh38
NC_000013.10:g.101733746_101733747insTGAGGCTATTGTTTTTTGTGAATTCTTCGATAATGGCCCATTTGGGCAAAAAGCCGGTTAGCGGGGGCAGGCCTCCT , CM000675.1:g.101733746_101733747insTGAGGCTATTGTTTTTTGTGAATTCTTCGATAATGGCCCATTTGGGCAAAAAGCCGGTTAGCGGGGGCAGGCCTCCT GRCh37
NC_000013.9:g.100531747_100531748insTGAGGCTATTGTTTTTTGTGAATTCTTCGATAATGGCCCATTTGGGCAAAAAGCCGGTTAGCGGGGGCAGGCCTCCT NCBI36
NG_053176.1:g.340813_340814insGAGGCCTGCCCCCGCTAACCGGCTTTTTGCCCAAATGGGCCATTATCGAAGAATTCACAAAAAACAATAGCCTCAAG

Transcript Alleles

HGVS Amino-acid Change
ENST00000251127.11:c.3885+133_3885+134insGAGGCCTGCCCCCGCTAACCGGCTTTTTGCCCAAATGGGCCATTATCGAAGAATTCACAAAAAACAATAGCCTCAAG MANE Select ENSP00000251127.6:n.3885+133_3885+134insGAGGCCTGCCCCCGCTAACCG...
ENST00000648359.1:c.3885+133_3885+134insGAGGCCTGCCCCCGCTAACCGGCTTTTTGCCCAAATGGGCCATTATCGAAGAATTCACAAAAAACAATAGCCTCAAG ENSP00000497465.1:n.3885+133_3885+134insGAGGCCTGCCCCCGCTAACCG...
ENST00000675150.1:c.3606+133_3606+134insGAGGCCTGCCCCCGCTAACCGGCTTTTTGCCCAAATGGGCCATTATCGAAGAATTCACAAAAAACAATAGCCTCAAG ENSP00000502680.1:n.3606+133_3606+134insGAGGCCTGCCCCCGCTAACCG...
ENST00000675332.1:c.3972+133_3972+134insGAGGCCTGCCCCCGCTAACCGGCTTTTTGCCCAAATGGGCCATTATCGAAGAATTCACAAAAAACAATAGCCTCAAG ENSP00000501955.1:n.3972+133_3972+134insGAGGCCTGCCCCCGCTAACCG...
ENST00000676315.1:c.3798+133_3798+134insGAGGCCTGCCCCCGCTAACCGGCTTTTTGCCCAAATGGGCCATTATCGAAGAATTCACAAAAAACAATAGCCTCAAG ENSP00000501603.1:n.3798+133_3798+134insGAGGCCTGCCCCCGCTAACCG...
ENST00000251127.10:c.3885+133_3885+134insGAGGCCTGCCCCCGCTAACCGGCTTTTTGCCCAAATGGGCCATTATCGAAGAATTCACAAAAAACAATAGCCTCAAG ENSP00000251127.6:n.3885+133_3885+134insGAGGCCTGCCCCCGCTAACCG...
NM_052867.2:c.3885+133_3885+134insGAGGCCTGCCCCCGCTAACCGGCTTTTTGCCCAAATGGGCCATTATCGAAGAATTCACAAAAAACAATAGCCTCAAG NP_443099.1:n.3885+133_3885+134insGAGGCCTGCCCCCGCTAACCGGCTTTT...
XM_011521067.1:c.3942+133_3942+134insGAGGCCTGCCCCCGCTAACCGGCTTTTTGCCCAAATGGGCCATTATCGAAGAATTCACAAAAAACAATAGCCTCAAG XP_011519369.1:n.3942+133_3942+134insGAGGCCTGCCCCCGCTAACCGGCT...
XM_011521068.1:c.3885+133_3885+134insGAGGCCTGCCCCCGCTAACCGGCTTTTTGCCCAAATGGGCCATTATCGAAGAATTCACAAAAAACAATAGCCTCAAG XP_011519370.1:n.3885+133_3885+134insGAGGCCTGCCCCCGCTAACCGGCT...
XM_011521069.1:c.3855+133_3855+134insGAGGCCTGCCCCCGCTAACCGGCTTTTTGCCCAAATGGGCCATTATCGAAGAATTCACAAAAAACAATAGCCTCAAG XP_011519371.1:n.3855+133_3855+134insGAGGCCTGCCCCCGCTAACCGGCT...
XM_011521070.1:c.3663+133_3663+134insGAGGCCTGCCCCCGCTAACCGGCTTTTTGCCCAAATGGGCCATTATCGAAGAATTCACAAAAAACAATAGCCTCAAG XP_011519372.1:n.3663+133_3663+134insGAGGCCTGCCCCCGCTAACCGGCT...
NM_001350748.1:c.3972+133_3972+134insGAGGCCTGCCCCCGCTAACCGGCTTTTTGCCCAAATGGGCCATTATCGAAGAATTCACAAAAAACAATAGCCTCAAG NP_001337677.1:n.3972+133_3972+134insGAGGCCTGCCCCCGCTAACCGGCT...
NM_001350749.1:c.3885+133_3885+134insGAGGCCTGCCCCCGCTAACCGGCTTTTTGCCCAAATGGGCCATTATCGAAGAATTCACAAAAAACAATAGCCTCAAG NP_001337678.1:n.3885+133_3885+134insGAGGCCTGCCCCCGCTAACCGGCT...
NM_001350750.1:c.3798+133_3798+134insGAGGCCTGCCCCCGCTAACCGGCTTTTTGCCCAAATGGGCCATTATCGAAGAATTCACAAAAAACAATAGCCTCAAG NP_001337679.1:n.3798+133_3798+134insGAGGCCTGCCCCCGCTAACCGGCT...
NM_001350751.1:c.3798+133_3798+134insGAGGCCTGCCCCCGCTAACCGGCTTTTTGCCCAAATGGGCCATTATCGAAGAATTCACAAAAAACAATAGCCTCAAG NP_001337680.1:n.3798+133_3798+134insGAGGCCTGCCCCCGCTAACCGGCT...
NM_052867.3:c.3885+133_3885+134insGAGGCCTGCCCCCGCTAACCGGCTTTTTGCCCAAATGGGCCATTATCGAAGAATTCACAAAAAACAATAGCCTCAAG NP_443099.1:n.3885+133_3885+134insGAGGCCTGCCCCCGCTAACCGGCTTTT...
XM_011521067.2:c.3942+133_3942+134insGAGGCCTGCCCCCGCTAACCGGCTTTTTGCCCAAATGGGCCATTATCGAAGAATTCACAAAAAACAATAGCCTCAAG XP_011519369.1:n.3942+133_3942+134insGAGGCCTGCCCCCGCTAACCGGCT...
XM_011521069.2:c.3855+133_3855+134insGAGGCCTGCCCCCGCTAACCGGCTTTTTGCCCAAATGGGCCATTATCGAAGAATTCACAAAAAACAATAGCCTCAAG XP_011519371.1:n.3855+133_3855+134insGAGGCCTGCCCCCGCTAACCGGCT...
XM_017020536.2:c.3438+133_3438+134insGAGGCCTGCCCCCGCTAACCGGCTTTTTGCCCAAATGGGCCATTATCGAAGAATTCACAAAAAACAATAGCCTCAAG XP_016876025.1:n.3438+133_3438+134insGAGGCCTGCCCCCGCTAACCGGCT...
XM_017020537.1:c.3120+133_3120+134insGAGGCCTGCCCCCGCTAACCGGCTTTTTGCCCAAATGGGCCATTATCGAAGAATTCACAAAAAACAATAGCCTCAAG XP_016876026.1:n.3120+133_3120+134insGAGGCCTGCCCCCGCTAACCGGCT...
XM_024449336.1:c.4029+133_4029+134insGAGGCCTGCCCCCGCTAACCGGCTTTTTGCCCAAATGGGCCATTATCGAAGAATTCACAAAAAACAATAGCCTCAAG XP_024305104.1:n.4029+133_4029+134insGAGGCCTGCCCCCGCTAACCGGCT...
NM_052867.4:c.3885+133_3885+134insGAGGCCTGCCCCCGCTAACCGGCTTTTTGCCCAAATGGGCCATTATCGAAGAATTCACAAAAAACAATAGCCTCAAG MANE Select NP_443099.1:n.3885+133_3885+134insGAGGCCTGCCCCCGCTAACCGGCTTTT...
NM_001350748.2:c.3972+133_3972+134insGAGGCCTGCCCCCGCTAACCGGCTTTTTGCCCAAATGGGCCATTATCGAAGAATTCACAAAAAACAATAGCCTCAAG NP_001337677.1:n.3972+133_3972+134insGAGGCCTGCCCCCGCTAACCGGCT...
NM_001350749.2:c.3885+133_3885+134insGAGGCCTGCCCCCGCTAACCGGCTTTTTGCCCAAATGGGCCATTATCGAAGAATTCACAAAAAACAATAGCCTCAAG NP_001337678.1:n.3885+133_3885+134insGAGGCCTGCCCCCGCTAACCGGCT...
NM_001350750.2:c.3798+133_3798+134insGAGGCCTGCCCCCGCTAACCGGCTTTTTGCCCAAATGGGCCATTATCGAAGAATTCACAAAAAACAATAGCCTCAAG NP_001337679.1:n.3798+133_3798+134insGAGGCCTGCCCCCGCTAACCGGCT...
NM_001350751.2:c.3798+133_3798+134insGAGGCCTGCCCCCGCTAACCGGCTTTTTGCCCAAATGGGCCATTATCGAAGAATTCACAAAAAACAATAGCCTCAAG NP_001337680.1:n.3798+133_3798+134insGAGGCCTGCCCCCGCTAACCGGCT...