Canonical Allele Identifier: CA919344942

Gene: NALCN

Linked Data

• dbSNP Id: rs1566333707
• gnomAD v4: 13-101143095-TTTGTTGTCCTCAA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.101143099_101143111del , CM000675.2:g.101143099_101143111del	GRCh38
NC_000013.10:g.101795450_101795462del , CM000675.1:g.101795450_101795462del	GRCh37
NC_000013.9:g.100593451_100593463del	NCBI36
NG_053176.1:g.279099_279111del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000251127.11:c.2090_2102del MANE Select	ENSP00000251127.6:p.Ile697AsnfsTer30
ENST00000467264.2:c.282_294del
ENST00000648359.1:c.2090_2102del	ENSP00000497465.1:p.Ile697AsnfsTer30
ENST00000675150.1:c.1840-18427_1840-18415del	ENSP00000502680.1:n.1840-18427_1840-18415del
ENST00000675332.1:c.2090_2102del	ENSP00000501955.1:p.Ile697AsnfsTer30
ENST00000675802.1:c.2090_2102del	ENSP00000501818.1:p.Ile697AsnfsTer30
ENST00000676315.1:c.2003_2015del	ENSP00000501603.1:p.Ile668AsnfsTer30
ENST00000251127.10:c.2090_2102del	ENSP00000251127.6:p.Ile697AsnfsTer30
ENST00000467264.1:n.114_126del
ENST00000497170.5:n.2244_2256del
NM_052867.2:c.2090_2102del	NP_443099.1:p.Ile697AsnfsTer30
XM_011521067.1:c.2147_2159del	XP_011519369.1:p.Ile716AsnfsTer30
XM_011521068.1:c.2090_2102del	XP_011519370.1:p.Ile697AsnfsTer30
XM_011521069.1:c.2060_2072del	XP_011519371.1:p.Ile687AsnfsTer30
XM_011521070.1:c.1897-18427_1897-18415del	XP_011519372.1:n.1897-18427_1897-18415del
NM_001350748.1:c.2090_2102del	NP_001337677.1:p.Ile697AsnfsTer30
NM_001350749.1:c.2090_2102del	NP_001337678.1:p.Ile697AsnfsTer30
NM_001350750.1:c.2003_2015del	NP_001337679.1:p.Ile668AsnfsTer30
NM_001350751.1:c.2003_2015del	NP_001337680.1:p.Ile668AsnfsTer30
NM_052867.3:c.2090_2102del	NP_443099.1:p.Ile697AsnfsTer30
XM_011521067.2:c.2147_2159del	XP_011519369.1:p.Ile716AsnfsTer30
XM_011521069.2:c.2060_2072del	XP_011519371.1:p.Ile687AsnfsTer30
XM_017020536.2:c.1643_1655del	XP_016876025.1:p.Ile548AsnfsTer30
XM_017020537.1:c.1325_1337del	XP_016876026.1:p.Ile442AsnfsTer30
XM_024449336.1:c.2147_2159del	XP_024305104.1:p.Ile716AsnfsTer30
NM_052867.4:c.2090_2102del MANE Select	NP_443099.1:p.Ile697AsnfsTer30
NM_001350748.2:c.2090_2102del	NP_001337677.1:p.Ile697AsnfsTer30
NM_001350749.2:c.2090_2102del	NP_001337678.1:p.Ile697AsnfsTer30
NM_001350750.2:c.2003_2015del	NP_001337679.1:p.Ile668AsnfsTer30
NM_001350751.2:c.2003_2015del	NP_001337680.1:p.Ile668AsnfsTer30