Canonical Allele Identifier: CA2665128588

Gene: SCN11A

Linked Data

• gnomAD v4: 3-38909310-G-GAAGCACAACTTCCCCCA

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.38909310_38909311insAAGCACAACTTCCCCCA , CM000665.2:g.38909310_38909311insAAGCACAACTTCCCCCA	GRCh38
NC_000003.11:g.38950801_38950802insAAGCACAACTTCCCCCA , CM000665.1:g.38950801_38950802insAAGCACAACTTCCCCCA	GRCh37
NC_000003.10:g.38925805_38925806insAAGCACAACTTCCCCCA	NCBI36
NG_033859.1:g.46251_46252insTGGGGGAAGTTGTGCTT
NG_033859.2:g.147676_147677insTGGGGGAAGTTGTGCTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000302328.9:c.1102-117_1102-116insTGGGGGAAGTTGTGCTT MANE Select	ENSP00000307599.3:n.1102-117_1102-116insTGGGGGAAGTTGTGCTT
ENST00000668754.1:c.1102-117_1102-116insTGGGGGAAGTTGTGCTT	ENSP00000499569.1:n.1102-117_1102-116insTGGGGGAAGTTGTGCTT
ENST00000675223.1:c.1102-117_1102-116insTGGGGGAAGTTGTGCTT	ENSP00000502481.1:n.1102-117_1102-116insTGGGGGAAGTTGTGCTT
ENST00000675672.1:c.1102-117_1102-116insTGGGGGAAGTTGTGCTT	ENSP00000502446.1:n.1102-117_1102-116insTGGGGGAAGTTGTGCTT
ENST00000675892.1:c.922-117_922-116insTGGGGGAAGTTGTGCTT	ENSP00000502318.1:n.922-117_922-116insTGGGGGAAGTTGTGCTT
ENST00000676045.1:c.1146-117_1146-116insTGGGGGAAGTTGTGCTT	ENSP00000501685.1:n.1146-117_1146-116insTGGGGGAAGTTGTGCTT
ENST00000676176.1:c.1102-117_1102-116insTGGGGGAAGTTGTGCTT	ENSP00000501891.1:n.1102-117_1102-116insTGGGGGAAGTTGTGCTT
ENST00000302328.7:c.1102-117_1102-116insTGGGGGAAGTTGTGCTT	ENSP00000307599.3:n.1102-117_1102-116insTGGGGGAAGTTGTGCTT
ENST00000444237.2:c.1102-117_1102-116insTGGGGGAAGTTGTGCTT	ENSP00000408028.2:n.1102-117_1102-116insTGGGGGAAGTTGTGCTT
ENST00000456224.7:c.1102-117_1102-116insTGGGGGAAGTTGTGCTT	ENSP00000416757.3:n.1102-117_1102-116insTGGGGGAAGTTGTGCTT
NM_001287223.1:c.1102-117_1102-116insTGGGGGAAGTTGTGCTT	NP_001274152.1:n.1102-117_1102-116insTGGGGGAAGTTGTGCTT
NM_014139.2:c.1102-117_1102-116insTGGGGGAAGTTGTGCTT	NP_054858.2:n.1102-117_1102-116insTGGGGGAAGTTGTGCTT
XM_011533320.1:c.1102-117_1102-116insTGGGGGAAGTTGTGCTT	XP_011531622.1:n.1102-117_1102-116insTGGGGGAAGTTGTGCTT
XM_011533321.1:c.439-117_439-116insTGGGGGAAGTTGTGCTT	XP_011531623.1:n.439-117_439-116insTGGGGGAAGTTGTGCTT
NM_001349253.1:c.1102-117_1102-116insTGGGGGAAGTTGTGCTT	NP_001336182.1:n.1102-117_1102-116insTGGGGGAAGTTGTGCTT
XM_011533321.2:c.439-117_439-116insTGGGGGAAGTTGTGCTT	XP_011531623.1:n.439-117_439-116insTGGGGGAAGTTGTGCTT
XM_017005647.1:c.1477-117_1477-116insTGGGGGAAGTTGTGCTT	XP_016861136.1:n.1477-117_1477-116insTGGGGGAAGTTGTGCTT
XM_017005648.1:c.1101+755_1101+756insTGGGGGAAGTTGTGCTT	XP_016861137.1:n.1101+755_1101+756insTGGGGGAAGTTGTGCTT
XM_017005650.1:c.1102-117_1102-116insTGGGGGAAGTTGTGCTT	XP_016861139.1:n.1102-117_1102-116insTGGGGGAAGTTGTGCTT
XM_017005651.1:c.829-117_829-116insTGGGGGAAGTTGTGCTT	XP_016861140.1:n.829-117_829-116insTGGGGGAAGTTGTGCTT
XM_017005652.1:c.1102-117_1102-116insTGGGGGAAGTTGTGCTT	XP_016861141.1:n.1102-117_1102-116insTGGGGGAAGTTGTGCTT
NM_001349253.2:c.1102-117_1102-116insTGGGGGAAGTTGTGCTT MANE Select	NP_001336182.1:n.1102-117_1102-116insTGGGGGAAGTTGTGCTT
NM_014139.3:c.1102-117_1102-116insTGGGGGAAGTTGTGCTT	NP_054858.2:n.1102-117_1102-116insTGGGGGAAGTTGTGCTT