Canonical Allele Identifier: CA537507779

Gene: SCN3A

Linked Data

• dbSNP Id: rs1256089375
• gnomAD v2: 2-165954009-GCTCCAACAA-G
• MyVariant Identifiers: chr2:g.165954010_165954018del (hg19) ; chr2:g.165097500_165097508del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.165097500_165097508del , CM000664.2:g.165097500_165097508del	GRCh38
NC_000002.11:g.165954010_165954018del , CM000664.1:g.165954010_165954018del	GRCh37
NC_000002.10:g.165662256_165662264del	NCBI36
NG_042289.1:g.111581_111589del

Transcript Alleles

HGVS	Amino-acid change
ENST00000706067.1:c.3932_3940del	ENSP00000516211.1:p.Leu1311_Ala1314delins...
ENST00000283254.12:c.3983_3991del MANE Select	ENSP00000283254.7:p.Leu1328_Ala1331delins...
ENST00000638473.1:c.*1824_*1832del	ENSP00000491552.1:n.*1824_*1832del
ENST00000639244.1:c.3932_3940del	ENSP00000492251.1:p.Leu1311_Ala1314delins...
ENST00000640652.1:c.*717_*725del	ENSP00000492807.1:n.*717_*725del
ENST00000658209.1:c.2192_2200del	ENSP00000499598.1:n.2192_2200del
ENST00000283254.11:c.3983_3991del	ENSP00000283254.7:p.Leu1328_Ala1331delins...
ENST00000360093.7:c.3983_3991del	ENSP00000353206.3:p.Leu1328_Ala1331delins...
ENST00000409101.7:c.3836_3844del	ENSP00000386726.3:p.Leu1279_Ala1282delins...
ENST00000440431.6:c.3836_3844del	ENSP00000403348.1:p.Leu1279_Ala1282delins...
ENST00000471697.1:n.107_115del
NM_001081676.1:c.3836_3844del	NP_001075145.1:p.Leu1279_Ala1282delinsPro...
NM_001081677.1:c.3836_3844del	NP_001075146.1:p.Leu1279_Ala1282delinsPro...
NM_006922.3:c.3983_3991del	NP_008853.3:p.Leu1328_Ala1331delinsPro
XM_006712679.1:c.3983_3991del	XP_006712742.1:p.Leu1328_Ala1331delinsPro...
XM_011511610.1:c.3983_3991del	XP_011509912.1:p.Leu1328_Ala1331delinsPro...
XM_011511611.1:c.3983_3991del	XP_011509913.1:p.Leu1328_Ala1331delinsPro...
XM_011511612.1:c.3932_3940del	XP_011509914.1:p.Leu1311_Ala1314delinsPro...
XM_011511613.1:c.2093_2101del	XP_011509915.1:p.Leu698_Ala701delinsPro
XM_011511610.3:c.3983_3991del	XP_011509912.1:p.Leu1328_Ala1331delinsPro...
XM_011511613.3:c.2093_2101del	XP_011509915.1:p.Leu698_Ala701delinsPro
XM_017004660.2:c.3983_3991del	XP_016860149.1:p.Leu1328_Ala1331delinsPro...
XM_017004661.2:c.3932_3940del	XP_016860150.1:p.Leu1311_Ala1314delinsPro...
XM_017004662.2:c.3845_3853del	XP_016860151.1:p.Leu1282_Ala1285delinsPro...
XM_017004663.2:c.2093_2101del	XP_016860152.1:p.Leu698_Ala701delinsPro
NM_006922.4:c.3983_3991del MANE Select	NP_008853.3:p.Leu1328_Ala1331delinsPro
NM_001081676.2:c.3836_3844del	NP_001075145.1:p.Leu1279_Ala1282delinsPro...
NM_001081677.2:c.3836_3844del	NP_001075146.1:p.Leu1279_Ala1282delinsPro...