Canonical Allele Identifier: CA1358718191

Gene: SCN11A

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.38894722_38894723delinsGG , CM000665.2:g.38894722_38894723delinsGG	GRCh38
NC_000003.11:g.38936213_38936214delinsGG , CM000665.1:g.38936213_38936214delinsGG	GRCh37
NC_000003.10:g.38911217_38911218delinsGG	NCBI36
NG_033859.1:g.60839_60840delinsCC
NG_033859.2:g.162264_162265delinsCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000302328.9:c.2645_2646delinsCC MANE Select	ENSP00000307599.3:p.Pro882=
ENST00000668754.1:c.2645_2646delinsCC	ENSP00000499569.1:p.Pro882=
ENST00000675223.1:c.2645_2646delinsCC	ENSP00000502481.1:p.Pro882=
ENST00000675672.1:c.2645_2646delinsCC	ENSP00000502446.1:p.Pro882=
ENST00000675892.1:c.2465_2466delinsCC	ENSP00000502318.1:p.Pro822=
ENST00000676045.1:c.2689_2690delinsCC	ENSP00000501685.1:n.2689_2690delinsCC
ENST00000676176.1:c.2264_2265delinsCC	ENSP00000501891.1:p.Pro755=
ENST00000302328.7:c.2645_2646delinsCC	ENSP00000307599.3:p.Pro882=
ENST00000444237.2:c.2645_2646delinsCC	ENSP00000408028.2:p.Pro882=
ENST00000456224.7:c.2645_2646delinsCC	ENSP00000416757.3:p.Pro882=
NM_001287223.1:c.2645_2646delinsCC	NP_001274152.1:p.Pro882=
NM_014139.2:c.2645_2646delinsCC	NP_054858.2:p.Pro882=
XM_011533320.1:c.2645_2646delinsCC	XP_011531622.1:p.Pro882=
XM_011533321.1:c.1982_1983delinsCC	XP_011531623.1:p.Pro661=
XM_011533322.1:c.1193_1194delinsCC	XP_011531624.1:p.Pro398=
NM_001349253.1:c.2645_2646delinsCC	NP_001336182.1:p.Pro882=
XM_011533321.2:c.1982_1983delinsCC	XP_011531623.1:p.Pro661=
XM_017005647.1:c.3020_3021delinsCC	XP_016861136.1:p.Pro1007=
XM_017005648.1:c.2447_2448delinsCC	XP_016861137.1:p.Pro816=
XM_017005650.1:c.2645_2646delinsCC	XP_016861139.1:p.Pro882=
XM_017005651.1:c.2372_2373delinsCC	XP_016861140.1:p.Pro791=
XM_017005652.1:c.2645_2646delinsCC	XP_016861141.1:p.Pro882=
XM_017005653.1:c.1049_1050delinsCC	XP_016861142.1:p.Pro350=
NM_001349253.2:c.2645_2646delinsCC MANE Select	NP_001336182.1:p.Pro882=
NM_014139.3:c.2645_2646delinsCC	NP_054858.2:p.Pro882=