Canonical Allele Identifier: CA1358718346

Gene: SCN11A

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.38895031_38895032delinsAG , CM000665.2:g.38895031_38895032delinsAG	GRCh38
NC_000003.11:g.38936522_38936523delinsAG , CM000665.1:g.38936522_38936523delinsAG	GRCh37
NC_000003.10:g.38911526_38911527delinsAG	NCBI36
NG_033859.1:g.60530_60531delinsCT
NG_033859.2:g.161955_161956delinsCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000302328.9:c.2404-68_2404-67delinsCT MANE Select	ENSP00000307599.3:n.2404-68_2404-67delinsCT
ENST00000668754.1:c.2404-68_2404-67delinsCT	ENSP00000499569.1:n.2404-68_2404-67delinsCT
ENST00000675223.1:c.2404-68_2404-67delinsCT	ENSP00000502481.1:n.2404-68_2404-67delinsCT
ENST00000675672.1:c.2404-68_2404-67delinsCT	ENSP00000502446.1:n.2404-68_2404-67delinsCT
ENST00000675892.1:c.2224-68_2224-67delinsCT	ENSP00000502318.1:n.2224-68_2224-67delinsCT
ENST00000676045.1:c.2448-68_2448-67delinsCT	ENSP00000501685.1:n.2448-68_2448-67delinsCT
ENST00000676176.1:c.2023-68_2023-67delinsCT	ENSP00000501891.1:n.2023-68_2023-67delinsCT
ENST00000302328.7:c.2404-68_2404-67delinsCT	ENSP00000307599.3:n.2404-68_2404-67delinsCT
ENST00000444237.2:c.2404-68_2404-67delinsCT	ENSP00000408028.2:n.2404-68_2404-67delinsCT
ENST00000456224.7:c.2404-68_2404-67delinsCT	ENSP00000416757.3:n.2404-68_2404-67delinsCT
NM_001287223.1:c.2404-68_2404-67delinsCT	NP_001274152.1:n.2404-68_2404-67delinsCT
NM_014139.2:c.2404-68_2404-67delinsCT	NP_054858.2:n.2404-68_2404-67delinsCT
XM_011533320.1:c.2404-68_2404-67delinsCT	XP_011531622.1:n.2404-68_2404-67delinsCT
XM_011533321.1:c.1741-68_1741-67delinsCT	XP_011531623.1:n.1741-68_1741-67delinsCT
XM_011533322.1:c.952-68_952-67delinsCT	XP_011531624.1:n.952-68_952-67delinsCT
NM_001349253.1:c.2404-68_2404-67delinsCT	NP_001336182.1:n.2404-68_2404-67delinsCT
XM_011533321.2:c.1741-68_1741-67delinsCT	XP_011531623.1:n.1741-68_1741-67delinsCT
XM_017005647.1:c.2779-68_2779-67delinsCT	XP_016861136.1:n.2779-68_2779-67delinsCT
XM_017005648.1:c.2206-68_2206-67delinsCT	XP_016861137.1:n.2206-68_2206-67delinsCT
XM_017005650.1:c.2404-68_2404-67delinsCT	XP_016861139.1:n.2404-68_2404-67delinsCT
XM_017005651.1:c.2131-68_2131-67delinsCT	XP_016861140.1:n.2131-68_2131-67delinsCT
XM_017005652.1:c.2404-68_2404-67delinsCT	XP_016861141.1:n.2404-68_2404-67delinsCT
XM_017005653.1:c.808-68_808-67delinsCT	XP_016861142.1:n.808-68_808-67delinsCT
NM_001349253.2:c.2404-68_2404-67delinsCT MANE Select	NP_001336182.1:n.2404-68_2404-67delinsCT
NM_014139.3:c.2404-68_2404-67delinsCT	NP_054858.2:n.2404-68_2404-67delinsCT