Canonical Allele Identifier: CA2623583429

Gene: NALCN

Linked Data

• gnomAD v4: 13-101292234-C-CA

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.101292235dup , CM000675.2:g.101292235dup	GRCh38
NC_000013.10:g.101944586dup , CM000675.1:g.101944586dup	GRCh37
NC_000013.9:g.100742587dup	NCBI36
NG_053176.1:g.129972dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000251127.11:c.931dup MANE Select	ENSP00000251127.6:p.Trp311LeufsTer13
ENST00000648359.1:c.931dup	ENSP00000497465.1:p.Trp311LeufsTer13
ENST00000674840.1:n.1029dup
ENST00000674904.1:n.1011dup
ENST00000675075.1:n.533dup
ENST00000675150.1:c.931dup	ENSP00000502680.1:p.Trp311LeufsTer13
ENST00000675332.1:c.931dup	ENSP00000501955.1:p.Trp311LeufsTer13
ENST00000675415.1:n.1114dup
ENST00000675594.1:c.*368dup	ENSP00000502490.1:n.*368dup
ENST00000675802.1:c.931dup	ENSP00000501818.1:p.Trp311LeufsTer13
ENST00000676315.1:c.931dup	ENSP00000501603.1:p.Trp311LeufsTer13
ENST00000676439.1:n.1105dup
ENST00000251127.10:c.931dup	ENSP00000251127.6:p.Trp311LeufsTer13
ENST00000470333.1:n.1027dup
ENST00000497170.5:n.1085dup
NM_052867.2:c.931dup	NP_443099.1:p.Trp311LeufsTer13
XM_011521067.1:c.988dup	XP_011519369.1:p.Trp330LeufsTer13
XM_011521068.1:c.931dup	XP_011519370.1:p.Trp311LeufsTer13
XM_011521069.1:c.988dup	XP_011519371.1:p.Trp330LeufsTer13
XM_011521070.1:c.988dup	XP_011519372.1:p.Trp330LeufsTer13
NM_001350748.1:c.931dup	NP_001337677.1:p.Trp311LeufsTer13
NM_001350749.1:c.931dup	NP_001337678.1:p.Trp311LeufsTer13
NM_001350750.1:c.931dup	NP_001337679.1:p.Trp311LeufsTer13
NM_001350751.1:c.931dup	NP_001337680.1:p.Trp311LeufsTer13
NM_052867.3:c.931dup	NP_443099.1:p.Trp311LeufsTer13
XM_011521067.2:c.988dup	XP_011519369.1:p.Trp330LeufsTer13
XM_011521069.2:c.988dup	XP_011519371.1:p.Trp330LeufsTer13
XM_017020536.2:c.484dup	XP_016876025.1:p.Trp162LeufsTer13
XM_017020537.1:c.166dup	XP_016876026.1:p.Trp56LeufsTer13
XM_024449336.1:c.988dup	XP_024305104.1:p.Trp330LeufsTer13
NM_052867.4:c.931dup MANE Select	NP_443099.1:p.Trp311LeufsTer13
NM_001350748.2:c.931dup	NP_001337677.1:p.Trp311LeufsTer13
NM_001350749.2:c.931dup	NP_001337678.1:p.Trp311LeufsTer13
NM_001350750.2:c.931dup	NP_001337679.1:p.Trp311LeufsTer13
NM_001350751.2:c.931dup	NP_001337680.1:p.Trp311LeufsTer13