Canonical Allele Identifier: CA1358718386

Gene: SCN11A

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.38895144_38895148delinsCAGTA , CM000665.2:g.38895144_38895148delinsCAGTA	GRCh38
NC_000003.11:g.38936635_38936639delinsCAGTA , CM000665.1:g.38936635_38936639delinsCAGTA	GRCh37
NC_000003.10:g.38911639_38911643delinsCAGTA	NCBI36
NG_033859.1:g.60414_60418delinsTACTG
NG_033859.2:g.161839_161843delinsTACTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000302328.9:c.2404-184_2404-180delinsTACTG MANE Select	ENSP00000307599.3:n.2404-184_2404-180delinsTACTG
ENST00000668754.1:c.2404-184_2404-180delinsTACTG	ENSP00000499569.1:n.2404-184_2404-180delinsTACTG
ENST00000675223.1:c.2404-184_2404-180delinsTACTG	ENSP00000502481.1:n.2404-184_2404-180delinsTACTG
ENST00000675672.1:c.2404-184_2404-180delinsTACTG	ENSP00000502446.1:n.2404-184_2404-180delinsTACTG
ENST00000675892.1:c.2224-184_2224-180delinsTACTG	ENSP00000502318.1:n.2224-184_2224-180delinsTACTG
ENST00000676045.1:c.2448-184_2448-180delinsTACTG	ENSP00000501685.1:n.2448-184_2448-180delinsTACTG
ENST00000676176.1:c.2023-184_2023-180delinsTACTG	ENSP00000501891.1:n.2023-184_2023-180delinsTACTG
ENST00000302328.7:c.2404-184_2404-180delinsTACTG	ENSP00000307599.3:n.2404-184_2404-180delinsTACTG
ENST00000444237.2:c.2404-184_2404-180delinsTACTG	ENSP00000408028.2:n.2404-184_2404-180delinsTACTG
ENST00000456224.7:c.2404-184_2404-180delinsTACTG	ENSP00000416757.3:n.2404-184_2404-180delinsTACTG
NM_001287223.1:c.2404-184_2404-180delinsTACTG	NP_001274152.1:n.2404-184_2404-180delinsTACTG
NM_014139.2:c.2404-184_2404-180delinsTACTG	NP_054858.2:n.2404-184_2404-180delinsTACTG
XM_011533320.1:c.2404-184_2404-180delinsTACTG	XP_011531622.1:n.2404-184_2404-180delinsTACTG
XM_011533321.1:c.1741-184_1741-180delinsTACTG	XP_011531623.1:n.1741-184_1741-180delinsTACTG
XM_011533322.1:c.952-184_952-180delinsTACTG	XP_011531624.1:n.952-184_952-180delinsTACTG
NM_001349253.1:c.2404-184_2404-180delinsTACTG	NP_001336182.1:n.2404-184_2404-180delinsTACTG
XM_011533321.2:c.1741-184_1741-180delinsTACTG	XP_011531623.1:n.1741-184_1741-180delinsTACTG
XM_017005647.1:c.2779-184_2779-180delinsTACTG	XP_016861136.1:n.2779-184_2779-180delinsTACTG
XM_017005648.1:c.2206-184_2206-180delinsTACTG	XP_016861137.1:n.2206-184_2206-180delinsTACTG
XM_017005650.1:c.2404-184_2404-180delinsTACTG	XP_016861139.1:n.2404-184_2404-180delinsTACTG
XM_017005651.1:c.2131-184_2131-180delinsTACTG	XP_016861140.1:n.2131-184_2131-180delinsTACTG
XM_017005652.1:c.2404-184_2404-180delinsTACTG	XP_016861141.1:n.2404-184_2404-180delinsTACTG
XM_017005653.1:c.808-184_808-180delinsTACTG	XP_016861142.1:n.808-184_808-180delinsTACTG
NM_001349253.2:c.2404-184_2404-180delinsTACTG MANE Select	NP_001336182.1:n.2404-184_2404-180delinsTACTG
NM_014139.3:c.2404-184_2404-180delinsTACTG	NP_054858.2:n.2404-184_2404-180delinsTACTG