Canonical Allele Identifier: CA1304438492

Gene: SCN3A

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.165097499_165097508delinsGCTCCAACAA , CM000664.2:g.165097499_165097508delinsGCTCCAACAA	GRCh38
NC_000002.11:g.165954009_165954018delinsGCTCCAACAA , CM000664.1:g.165954009_165954018delinsGCTCCAACAA	GRCh37
NC_000002.10:g.165662255_165662264delinsGCTCCAACAA	NCBI36
NG_042289.1:g.111581_111590delinsTTGTTGGAGC

Transcript Alleles

HGVS	Amino-acid change
ENST00000706067.1:c.3932_3941delinsTTGTTGGAGC	ENSP00000516211.1:p.Leu1311=
ENST00000283254.12:c.3983_3992delinsTTGTTGGAGC MANE Select	ENSP00000283254.7:p.Leu1328=
ENST00000638473.1:c.*1824_*1833delinsTTGTTGGAGC	ENSP00000491552.1:n.*1824_*1833delinsTTGTTGGAGC
ENST00000639244.1:c.3932_3941delinsTTGTTGGAGC	ENSP00000492251.1:p.Leu1311=
ENST00000640652.1:c.*717_*726delinsTTGTTGGAGC	ENSP00000492807.1:n.*717_*726delinsTTGTTGGAGC
ENST00000658209.1:c.2192_2201delinsTTGTTGGAGC	ENSP00000499598.1:n.2192_2201delinsTTGTTGGAGC
ENST00000283254.11:c.3983_3992delinsTTGTTGGAGC	ENSP00000283254.7:p.Leu1328=
ENST00000360093.7:c.3983_3992delinsTTGTTGGAGC	ENSP00000353206.3:p.Leu1328=
ENST00000409101.7:c.3836_3845delinsTTGTTGGAGC	ENSP00000386726.3:p.Leu1279=
ENST00000440431.6:c.3836_3845delinsTTGTTGGAGC	ENSP00000403348.1:p.Leu1279=
ENST00000471697.1:n.107_116delinsTTGTTGGAGC
NM_001081676.1:c.3836_3845delinsTTGTTGGAGC	NP_001075145.1:p.Leu1279=
NM_001081677.1:c.3836_3845delinsTTGTTGGAGC	NP_001075146.1:p.Leu1279=
NM_006922.3:c.3983_3992delinsTTGTTGGAGC	NP_008853.3:p.Leu1328=
XM_006712679.1:c.3983_3992delinsTTGTTGGAGC	XP_006712742.1:p.Leu1328=
XM_011511610.1:c.3983_3992delinsTTGTTGGAGC	XP_011509912.1:p.Leu1328=
XM_011511611.1:c.3983_3992delinsTTGTTGGAGC	XP_011509913.1:p.Leu1328=
XM_011511612.1:c.3932_3941delinsTTGTTGGAGC	XP_011509914.1:p.Leu1311=
XM_011511613.1:c.2093_2102delinsTTGTTGGAGC	XP_011509915.1:p.Leu698=
XM_011511610.3:c.3983_3992delinsTTGTTGGAGC	XP_011509912.1:p.Leu1328=
XM_011511613.3:c.2093_2102delinsTTGTTGGAGC	XP_011509915.1:p.Leu698=
XM_017004660.2:c.3983_3992delinsTTGTTGGAGC	XP_016860149.1:p.Leu1328=
XM_017004661.2:c.3932_3941delinsTTGTTGGAGC	XP_016860150.1:p.Leu1311=
XM_017004662.2:c.3845_3854delinsTTGTTGGAGC	XP_016860151.1:p.Leu1282=
XM_017004663.2:c.2093_2102delinsTTGTTGGAGC	XP_016860152.1:p.Leu698=
NM_006922.4:c.3983_3992delinsTTGTTGGAGC MANE Select	NP_008853.3:p.Leu1328=
NM_001081676.2:c.3836_3845delinsTTGTTGGAGC	NP_001075145.1:p.Leu1279=
NM_001081677.2:c.3836_3845delinsTTGTTGGAGC	NP_001075146.1:p.Leu1279=