Canonical Allele Identifier: CA2623581590

Gene: NALCN

Linked Data

• gnomAD v4: 13-101176299-CTTGT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.101176302_101176305del , CM000675.2:g.101176302_101176305del	GRCh38
NC_000013.10:g.101828653_101828656del , CM000675.1:g.101828653_101828656del	GRCh37
NC_000013.9:g.100626654_100626657del	NCBI36
NG_053176.1:g.245904_245907del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000251127.11:c.1836_1839del MANE Select	ENSP00000251127.6:p.Lys612AsnfsTer2
ENST00000467264.2:c.28_31del
ENST00000648359.1:c.1836_1839del	ENSP00000497465.1:p.Lys612AsnfsTer2
ENST00000674840.1:n.1934_1937del
ENST00000675150.1:c.1836_1839del	ENSP00000502680.1:p.Lys612AsnfsTer25
ENST00000675332.1:c.1836_1839del	ENSP00000501955.1:p.Lys612AsnfsTer2
ENST00000675802.1:c.1836_1839del	ENSP00000501818.1:p.Lys612AsnfsTer2
ENST00000675891.1:n.676_679del
ENST00000676315.1:c.1749_1752del	ENSP00000501603.1:p.Lys583AsnfsTer2
ENST00000676439.1:n.2010_2013del
ENST00000251127.10:c.1836_1839del	ENSP00000251127.6:p.Lys612AsnfsTer2
ENST00000497170.5:n.1990_1993del
NM_052867.2:c.1836_1839del	NP_443099.1:p.Lys612AsnfsTer2
XM_011521067.1:c.1893_1896del	XP_011519369.1:p.Lys631AsnfsTer2
XM_011521068.1:c.1836_1839del	XP_011519370.1:p.Lys612AsnfsTer2
XM_011521069.1:c.1806_1809del	XP_011519371.1:p.Lys602AsnfsTer2
XM_011521070.1:c.1893_1896del	XP_011519372.1:p.Lys631AsnfsTer25
NM_001350748.1:c.1836_1839del	NP_001337677.1:p.Lys612AsnfsTer2
NM_001350749.1:c.1836_1839del	NP_001337678.1:p.Lys612AsnfsTer2
NM_001350750.1:c.1749_1752del	NP_001337679.1:p.Lys583AsnfsTer2
NM_001350751.1:c.1749_1752del	NP_001337680.1:p.Lys583AsnfsTer2
NM_052867.3:c.1836_1839del	NP_443099.1:p.Lys612AsnfsTer2
XM_011521067.2:c.1893_1896del	XP_011519369.1:p.Lys631AsnfsTer2
XM_011521069.2:c.1806_1809del	XP_011519371.1:p.Lys602AsnfsTer2
XM_017020536.2:c.1389_1392del	XP_016876025.1:p.Lys463AsnfsTer2
XM_017020537.1:c.1071_1074del	XP_016876026.1:p.Lys357AsnfsTer2
XM_024449336.1:c.1893_1896del	XP_024305104.1:p.Lys631AsnfsTer2
NM_052867.4:c.1836_1839del MANE Select	NP_443099.1:p.Lys612AsnfsTer2
NM_001350748.2:c.1836_1839del	NP_001337677.1:p.Lys612AsnfsTer2
NM_001350749.2:c.1836_1839del	NP_001337678.1:p.Lys612AsnfsTer2
NM_001350750.2:c.1749_1752del	NP_001337679.1:p.Lys583AsnfsTer2
NM_001350751.2:c.1749_1752del	NP_001337680.1:p.Lys583AsnfsTer2