Canonical Allele Identifier: CA1358718145

Gene: SCN11A

Linked Data

• ClinVar Variation Id: 2933777
• ClinVar RCV Id: RCV003793335
• dbSNP Id: rs2065559632
• gnomAD v4: 3-38894648-AGGGTCTTTGG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.38894649_38894658del , CM000665.2:g.38894649_38894658del	GRCh38
NC_000003.11:g.38936140_38936149del , CM000665.1:g.38936140_38936149del	GRCh37
NC_000003.10:g.38911144_38911153del	NCBI36
NG_033859.1:g.60904_60913del
NG_033859.2:g.162329_162338del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000302328.9:c.2710_2719del MANE Select	ENSP00000307599.3:p.Pro904TrpfsTer?
ENST00000668754.1:c.2710_2719del	ENSP00000499569.1:p.Pro904TrpfsTer?
ENST00000675223.1:c.2710_2719del	ENSP00000502481.1:p.Pro904TrpfsTer?
ENST00000675672.1:c.2710_2719del	ENSP00000502446.1:p.Pro904TrpfsTer?
ENST00000675892.1:c.2530_2539del	ENSP00000502318.1:p.Pro844TrpfsTer?
ENST00000676045.1:c.2754_2763del	ENSP00000501685.1:n.2754_2763del
ENST00000676176.1:c.2329_2338del	ENSP00000501891.1:p.Pro777TrpfsTer?
ENST00000302328.7:c.2710_2719del	ENSP00000307599.3:p.Pro904TrpfsTer?
ENST00000444237.2:c.2710_2719del	ENSP00000408028.2:p.Pro904TrpfsTer?
ENST00000456224.7:c.2710_2719del	ENSP00000416757.3:p.Pro904TrpfsTer?
NM_001287223.1:c.2710_2719del	NP_001274152.1:p.Pro904TrpfsTer?
NM_014139.2:c.2710_2719del	NP_054858.2:p.Pro904TrpfsTer?
XM_011533320.1:c.2710_2719del	XP_011531622.1:p.Pro904TrpfsTer?
XM_011533321.1:c.2047_2056del	XP_011531623.1:p.Pro683TrpfsTer?
XM_011533322.1:c.1258_1267del	XP_011531624.1:p.Pro420TrpfsTer?
NM_001349253.1:c.2710_2719del	NP_001336182.1:p.Pro904TrpfsTer?
XM_011533321.2:c.2047_2056del	XP_011531623.1:p.Pro683TrpfsTer?
XM_017005647.1:c.3085_3094del	XP_016861136.1:p.Pro1029TrpfsTer?
XM_017005648.1:c.2512_2521del	XP_016861137.1:p.Pro838TrpfsTer?
XM_017005650.1:c.2710_2719del	XP_016861139.1:p.Pro904TrpfsTer?
XM_017005651.1:c.2437_2446del	XP_016861140.1:p.Pro813TrpfsTer?
XM_017005652.1:c.2710_2719del	XP_016861141.1:p.Pro904TrpfsTer?
XM_017005653.1:c.1114_1123del	XP_016861142.1:p.Pro372TrpfsTer?
NM_001349253.2:c.2710_2719del MANE Select	NP_001336182.1:p.Pro904TrpfsTer?
NM_014139.3:c.2710_2719del	NP_054858.2:p.Pro904TrpfsTer?