Canonical Allele Identifier: CA2739277734
Gene: NALCN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.101081568_101081569del , CM000675.2:g.101081568_101081569del GRCh38
NC_000013.10:g.101733919_101733920del , CM000675.1:g.101733919_101733920del GRCh37
NC_000013.9:g.100531920_100531921del NCBI36
NG_053176.1:g.340638_340639del

Transcript Alleles

HGVS Amino-acid Change
ENST00000251127.11:c.3843_3844del MANE Select ENSP00000251127.6:p.Ser1282AlafsTer28
ENST00000648359.1:c.3843_3844del ENSP00000497465.1:p.Ser1282AlafsTer28
ENST00000675150.1:c.3564_3565del ENSP00000502680.1:p.Ser1189AlafsTer28
ENST00000675332.1:c.3930_3931del ENSP00000501955.1:p.Ser1311AlafsTer28
ENST00000676315.1:c.3756_3757del ENSP00000501603.1:p.Ser1253AlafsTer28
ENST00000251127.10:c.3843_3844del ENSP00000251127.6:p.Ser1282AlafsTer28
NM_052867.2:c.3843_3844del NP_443099.1:p.Ser1282AlafsTer28
XM_011521067.1:c.3900_3901del XP_011519369.1:p.Ser1301AlafsTer28
XM_011521068.1:c.3843_3844del XP_011519370.1:p.Ser1282AlafsTer28
XM_011521069.1:c.3813_3814del XP_011519371.1:p.Ser1272AlafsTer28
XM_011521070.1:c.3621_3622del XP_011519372.1:p.Ser1208AlafsTer28
NM_001350748.1:c.3930_3931del NP_001337677.1:p.Ser1311AlafsTer28
NM_001350749.1:c.3843_3844del NP_001337678.1:p.Ser1282AlafsTer28
NM_001350750.1:c.3756_3757del NP_001337679.1:p.Ser1253AlafsTer28
NM_001350751.1:c.3756_3757del NP_001337680.1:p.Ser1253AlafsTer28
NM_052867.3:c.3843_3844del NP_443099.1:p.Ser1282AlafsTer28
XM_011521067.2:c.3900_3901del XP_011519369.1:p.Ser1301AlafsTer28
XM_011521069.2:c.3813_3814del XP_011519371.1:p.Ser1272AlafsTer28
XM_017020536.2:c.3396_3397del XP_016876025.1:p.Ser1133AlafsTer28
XM_017020537.1:c.3078_3079del XP_016876026.1:p.Ser1027AlafsTer28
XM_024449336.1:c.3987_3988del XP_024305104.1:p.Ser1330AlafsTer28
NM_052867.4:c.3843_3844del MANE Select NP_443099.1:p.Ser1282AlafsTer28
NM_001350748.2:c.3930_3931del NP_001337677.1:p.Ser1311AlafsTer28
NM_001350749.2:c.3843_3844del NP_001337678.1:p.Ser1282AlafsTer28
NM_001350750.2:c.3756_3757del NP_001337679.1:p.Ser1253AlafsTer28
NM_001350751.2:c.3756_3757del NP_001337680.1:p.Ser1253AlafsTer28