Canonical Allele Identifier: CA611941243

Gene: NALCN

Linked Data

• dbSNP Id: rs1227602450
• gnomAD v2: 13-101713454-AAAGT-A
• gnomAD v3: 13-101061102-AAAGT-A
• gnomAD v4: 13-101061102-AAAGT-A
• MyVariant Identifiers: chr13:g.101713455_101713458del (hg19) ; chr13:g.101061103_101061106del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.101061105_101061108del , CM000675.2:g.101061105_101061108del	GRCh38
NC_000013.10:g.101713457_101713460del , CM000675.1:g.101713457_101713460del	GRCh37
NC_000013.9:g.100511458_100511461del	NCBI36
NG_053176.1:g.361101_361104del

Transcript Alleles

HGVS	Amino-acid change
ENST00000251127.11:c.4755+862_4755+865del MANE Select	ENSP00000251127.6:n.4755+862_4755+865del
ENST00000648359.1:c.*375+862_*375+865del	ENSP00000497465.1:n.*375+862_*375+865del
ENST00000675150.1:c.4476+862_4476+865del	ENSP00000502680.1:n.4476+862_4476+865del
ENST00000675332.1:c.4842+862_4842+865del	ENSP00000501955.1:n.4842+862_4842+865del
ENST00000676315.1:c.4668+862_4668+865del	ENSP00000501603.1:n.4668+862_4668+865del
ENST00000251127.10:c.4755+862_4755+865del	ENSP00000251127.6:n.4755+862_4755+865del
NM_052867.2:c.4755+862_4755+865del	NP_443099.1:n.4755+862_4755+865del
XM_011521067.1:c.4812+862_4812+865del	XP_011519369.1:n.4812+862_4812+865del
XM_011521068.1:c.4755+862_4755+865del	XP_011519370.1:n.4755+862_4755+865del
XM_011521069.1:c.4725+862_4725+865del	XP_011519371.1:n.4725+862_4725+865del
XM_011521070.1:c.4533+862_4533+865del	XP_011519372.1:n.4533+862_4533+865del
NM_001350748.1:c.4842+862_4842+865del	NP_001337677.1:n.4842+862_4842+865del
NM_001350749.1:c.4755+862_4755+865del	NP_001337678.1:n.4755+862_4755+865del
NM_001350750.1:c.4668+862_4668+865del	NP_001337679.1:n.4668+862_4668+865del
NM_001350751.1:c.4668+862_4668+865del	NP_001337680.1:n.4668+862_4668+865del
NM_052867.3:c.4755+862_4755+865del	NP_443099.1:n.4755+862_4755+865del
XM_011521067.2:c.4812+862_4812+865del	XP_011519369.1:n.4812+862_4812+865del
XM_011521069.2:c.4725+862_4725+865del	XP_011519371.1:n.4725+862_4725+865del
XM_017020536.2:c.4308+862_4308+865del	XP_016876025.1:n.4308+862_4308+865del
XM_017020537.1:c.3990+862_3990+865del	XP_016876026.1:n.3990+862_3990+865del
XM_024449336.1:c.4899+862_4899+865del	XP_024305104.1:n.4899+862_4899+865del
NM_052867.4:c.4755+862_4755+865del MANE Select	NP_443099.1:n.4755+862_4755+865del
NM_001350748.2:c.4842+862_4842+865del	NP_001337677.1:n.4842+862_4842+865del
NM_001350749.2:c.4755+862_4755+865del	NP_001337678.1:n.4755+862_4755+865del
NM_001350750.2:c.4668+862_4668+865del	NP_001337679.1:n.4668+862_4668+865del
NM_001350751.2:c.4668+862_4668+865del	NP_001337680.1:n.4668+862_4668+865del