Canonical Allele Identifier: CA2114483783
Gene: NALCN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.101291886_101291905delinsTATAGAAGCCCATCATGCAA , CM000675.2:g.101291886_101291905delinsTATAGAAGCCCATCATGCAA GRCh38
NC_000013.10:g.101944237_101944256delinsTATAGAAGCCCATCATGCAA , CM000675.1:g.101944237_101944256delinsTATAGAAGCCCATCATGCAA GRCh37
NC_000013.9:g.100742238_100742257delinsTATAGAAGCCCATCATGCAA NCBI36
NG_053176.1:g.130302_130321delinsTTGCATGATGGGCTTCTATA

Transcript Alleles

HGVS Amino-acid Change
ENST00000251127.11:c.1047+85_1047+104delinsTTGCATGATGGGCTTCTATA MANE Select ENSP00000251127.6:n.1047+85_1047+104delinsTTGCATGATGGGCTTCTAT...
ENST00000648359.1:c.1047+85_1047+104delinsTTGCATGATGGGCTTCTATA ENSP00000497465.1:n.1047+85_1047+104delinsTTGCATGATGGGCTTCTAT...
ENST00000674840.1:n.1145+85_1145+104delinsTTGCATGATGGGCTTCTATA
ENST00000674904.1:n.1127+85_1127+104delinsTTGCATGATGGGCTTCTATA
ENST00000675150.1:c.1047+85_1047+104delinsTTGCATGATGGGCTTCTATA ENSP00000502680.1:n.1047+85_1047+104delinsTTGCATGATGGGCTTCTAT...
ENST00000675332.1:c.1047+85_1047+104delinsTTGCATGATGGGCTTCTATA ENSP00000501955.1:n.1047+85_1047+104delinsTTGCATGATGGGCTTCTAT...
ENST00000675415.1:n.1230+85_1230+104delinsTTGCATGATGGGCTTCTATA
ENST00000675594.1:c.*484+85_*484+104delinsTTGCATGATGGGCTTCTATA ENSP00000502490.1:n.*484+85_*484+104delinsTTGCATGATGGGCTTCTAT...
ENST00000675802.1:c.1047+85_1047+104delinsTTGCATGATGGGCTTCTATA ENSP00000501818.1:n.1047+85_1047+104delinsTTGCATGATGGGCTTCTAT...
ENST00000676315.1:c.1047+85_1047+104delinsTTGCATGATGGGCTTCTATA ENSP00000501603.1:n.1047+85_1047+104delinsTTGCATGATGGGCTTCTAT...
ENST00000676439.1:n.1221+85_1221+104delinsTTGCATGATGGGCTTCTATA
ENST00000251127.10:c.1047+85_1047+104delinsTTGCATGATGGGCTTCTATA ENSP00000251127.6:n.1047+85_1047+104delinsTTGCATGATGGGCTTCTAT...
ENST00000470333.1:n.1143+85_1143+104delinsTTGCATGATGGGCTTCTATA
ENST00000497170.5:n.1201+85_1201+104delinsTTGCATGATGGGCTTCTATA
NM_052867.2:c.1047+85_1047+104delinsTTGCATGATGGGCTTCTATA NP_443099.1:n.1047+85_1047+104delinsTTGCATGATGGGCTTCTATA
XM_011521067.1:c.1104+85_1104+104delinsTTGCATGATGGGCTTCTATA XP_011519369.1:n.1104+85_1104+104delinsTTGCATGATGGGCTTCTATA
XM_011521068.1:c.1047+85_1047+104delinsTTGCATGATGGGCTTCTATA XP_011519370.1:n.1047+85_1047+104delinsTTGCATGATGGGCTTCTATA
XM_011521069.1:c.1104+85_1104+104delinsTTGCATGATGGGCTTCTATA XP_011519371.1:n.1104+85_1104+104delinsTTGCATGATGGGCTTCTATA
XM_011521070.1:c.1104+85_1104+104delinsTTGCATGATGGGCTTCTATA XP_011519372.1:n.1104+85_1104+104delinsTTGCATGATGGGCTTCTATA
NM_001350748.1:c.1047+85_1047+104delinsTTGCATGATGGGCTTCTATA NP_001337677.1:n.1047+85_1047+104delinsTTGCATGATGGGCTTCTATA
NM_001350749.1:c.1047+85_1047+104delinsTTGCATGATGGGCTTCTATA NP_001337678.1:n.1047+85_1047+104delinsTTGCATGATGGGCTTCTATA
NM_001350750.1:c.1047+85_1047+104delinsTTGCATGATGGGCTTCTATA NP_001337679.1:n.1047+85_1047+104delinsTTGCATGATGGGCTTCTATA
NM_001350751.1:c.1047+85_1047+104delinsTTGCATGATGGGCTTCTATA NP_001337680.1:n.1047+85_1047+104delinsTTGCATGATGGGCTTCTATA
NM_052867.3:c.1047+85_1047+104delinsTTGCATGATGGGCTTCTATA NP_443099.1:n.1047+85_1047+104delinsTTGCATGATGGGCTTCTATA
XM_011521067.2:c.1104+85_1104+104delinsTTGCATGATGGGCTTCTATA XP_011519369.1:n.1104+85_1104+104delinsTTGCATGATGGGCTTCTATA
XM_011521069.2:c.1104+85_1104+104delinsTTGCATGATGGGCTTCTATA XP_011519371.1:n.1104+85_1104+104delinsTTGCATGATGGGCTTCTATA
XM_017020536.2:c.600+85_600+104delinsTTGCATGATGGGCTTCTATA XP_016876025.1:n.600+85_600+104delinsTTGCATGATGGGCTTCTATA
XM_017020537.1:c.282+85_282+104delinsTTGCATGATGGGCTTCTATA XP_016876026.1:n.282+85_282+104delinsTTGCATGATGGGCTTCTATA
XM_024449336.1:c.1104+85_1104+104delinsTTGCATGATGGGCTTCTATA XP_024305104.1:n.1104+85_1104+104delinsTTGCATGATGGGCTTCTATA
NM_052867.4:c.1047+85_1047+104delinsTTGCATGATGGGCTTCTATA MANE Select NP_443099.1:n.1047+85_1047+104delinsTTGCATGATGGGCTTCTATA
NM_001350748.2:c.1047+85_1047+104delinsTTGCATGATGGGCTTCTATA NP_001337677.1:n.1047+85_1047+104delinsTTGCATGATGGGCTTCTATA
NM_001350749.2:c.1047+85_1047+104delinsTTGCATGATGGGCTTCTATA NP_001337678.1:n.1047+85_1047+104delinsTTGCATGATGGGCTTCTATA
NM_001350750.2:c.1047+85_1047+104delinsTTGCATGATGGGCTTCTATA NP_001337679.1:n.1047+85_1047+104delinsTTGCATGATGGGCTTCTATA
NM_001350751.2:c.1047+85_1047+104delinsTTGCATGATGGGCTTCTATA NP_001337680.1:n.1047+85_1047+104delinsTTGCATGATGGGCTTCTATA