Canonical Allele Identifier: CA2580087016

Gene: NALCN

Linked Data

• ClinVar Variation Id: 1704785
• ClinVar RCV Id: RCV002283112

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.101143191_101143192delinsAA , CM000675.2:g.101143191_101143192delinsAA	GRCh38
NC_000013.10:g.101795542_101795543delinsAA , CM000675.1:g.101795542_101795543delinsAA	GRCh37
NC_000013.9:g.100593543_100593544delinsAA	NCBI36
NG_053176.1:g.279015_279016delinsTT

Transcript Alleles

HGVS	Amino-acid change
ENST00000251127.11:c.2006_2007delinsTT MANE Select	ENSP00000251127.6:p.Arg669Leu
ENST00000467264.2:c.198_199delinsTT
ENST00000648359.1:c.2006_2007delinsTT	ENSP00000497465.1:p.Arg669Leu
ENST00000675150.1:c.1840-18511_1840-18510delinsTT	ENSP00000502680.1:n.1840-18511_1840-18510...
ENST00000675332.1:c.2006_2007delinsTT	ENSP00000501955.1:p.Arg669Leu
ENST00000675802.1:c.2006_2007delinsTT	ENSP00000501818.1:p.Arg669Leu
ENST00000676315.1:c.1919_1920delinsTT	ENSP00000501603.1:p.Arg640Leu
ENST00000251127.10:c.2006_2007delinsTT	ENSP00000251127.6:p.Arg669Leu
ENST00000467264.1:n.30_31delinsTT
ENST00000497170.5:n.2160_2161delinsTT
NM_052867.2:c.2006_2007delinsTT	NP_443099.1:p.Arg669Leu
XM_011521067.1:c.2063_2064delinsTT	XP_011519369.1:p.Arg688Leu
XM_011521068.1:c.2006_2007delinsTT	XP_011519370.1:p.Arg669Leu
XM_011521069.1:c.1976_1977delinsTT	XP_011519371.1:p.Arg659Leu
XM_011521070.1:c.1897-18511_1897-18510delinsTT	XP_011519372.1:n.1897-18511_1897-18510del...
NM_001350748.1:c.2006_2007delinsTT	NP_001337677.1:p.Arg669Leu
NM_001350749.1:c.2006_2007delinsTT	NP_001337678.1:p.Arg669Leu
NM_001350750.1:c.1919_1920delinsTT	NP_001337679.1:p.Arg640Leu
NM_001350751.1:c.1919_1920delinsTT	NP_001337680.1:p.Arg640Leu
NM_052867.3:c.2006_2007delinsTT	NP_443099.1:p.Arg669Leu
XM_011521067.2:c.2063_2064delinsTT	XP_011519369.1:p.Arg688Leu
XM_011521069.2:c.1976_1977delinsTT	XP_011519371.1:p.Arg659Leu
XM_017020536.2:c.1559_1560delinsTT	XP_016876025.1:p.Arg520Leu
XM_017020537.1:c.1241_1242delinsTT	XP_016876026.1:p.Arg414Leu
XM_024449336.1:c.2063_2064delinsTT	XP_024305104.1:p.Arg688Leu
NM_052867.4:c.2006_2007delinsTT MANE Select	NP_443099.1:p.Arg669Leu
NM_001350748.2:c.2006_2007delinsTT	NP_001337677.1:p.Arg669Leu
NM_001350749.2:c.2006_2007delinsTT	NP_001337678.1:p.Arg669Leu
NM_001350750.2:c.1919_1920delinsTT	NP_001337679.1:p.Arg640Leu
NM_001350751.2:c.1919_1920delinsTT	NP_001337680.1:p.Arg640Leu