Canonical Allele Identifier: CA1139663068

Gene: NALCN

Linked Data

• ClinVar Variation Id: 973556
• ClinVar RCV Id: RCV001250195
• dbSNP Id: rs2043584001

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.101292286del , CM000675.2:g.101292286del	GRCh38
NC_000013.10:g.101944637del , CM000675.1:g.101944637del	GRCh37
NC_000013.9:g.100742638del	NCBI36
NG_053176.1:g.129924del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000251127.11:c.883del MANE Select	ENSP00000251127.6:p.Arg295ValfsTer19
ENST00000648359.1:c.883del	ENSP00000497465.1:p.Arg295ValfsTer19
ENST00000674840.1:n.981del
ENST00000674904.1:n.963del
ENST00000675075.1:n.485del
ENST00000675150.1:c.883del	ENSP00000502680.1:p.Arg295ValfsTer19
ENST00000675332.1:c.883del	ENSP00000501955.1:p.Arg295ValfsTer19
ENST00000675415.1:n.1066del
ENST00000675594.1:c.*320del	ENSP00000502490.1:n.*320del
ENST00000675802.1:c.883del	ENSP00000501818.1:p.Arg295ValfsTer19
ENST00000676315.1:c.883del	ENSP00000501603.1:p.Arg295ValfsTer19
ENST00000676439.1:n.1057del
ENST00000251127.10:c.883del	ENSP00000251127.6:p.Arg295ValfsTer19
ENST00000470333.1:n.979del
ENST00000497170.5:n.1037del
NM_052867.2:c.883del	NP_443099.1:p.Arg295ValfsTer19
XM_011521067.1:c.940del	XP_011519369.1:p.Arg314ValfsTer19
XM_011521068.1:c.883del	XP_011519370.1:p.Arg295ValfsTer19
XM_011521069.1:c.940del	XP_011519371.1:p.Arg314ValfsTer19
XM_011521070.1:c.940del	XP_011519372.1:p.Arg314ValfsTer19
NM_001350748.1:c.883del	NP_001337677.1:p.Arg295ValfsTer19
NM_001350749.1:c.883del	NP_001337678.1:p.Arg295ValfsTer19
NM_001350750.1:c.883del	NP_001337679.1:p.Arg295ValfsTer19
NM_001350751.1:c.883del	NP_001337680.1:p.Arg295ValfsTer19
NM_052867.3:c.883del	NP_443099.1:p.Arg295ValfsTer19
XM_011521067.2:c.940del	XP_011519369.1:p.Arg314ValfsTer19
XM_011521069.2:c.940del	XP_011519371.1:p.Arg314ValfsTer19
XM_017020536.2:c.436del	XP_016876025.1:p.Arg146ValfsTer19
XM_017020537.1:c.118del	XP_016876026.1:p.Arg40ValfsTer19
XM_024449336.1:c.940del	XP_024305104.1:p.Arg314ValfsTer19
NM_052867.4:c.883del MANE Select	NP_443099.1:p.Arg295ValfsTer19
NM_001350748.2:c.883del	NP_001337677.1:p.Arg295ValfsTer19
NM_001350749.2:c.883del	NP_001337678.1:p.Arg295ValfsTer19
NM_001350750.2:c.883del	NP_001337679.1:p.Arg295ValfsTer19
NM_001350751.2:c.883del	NP_001337680.1:p.Arg295ValfsTer19