Canonical Allele Identifier: CA2333466936

Gene: SCN1B

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.35033438_35033448delinsGGGTCAGGTAA , CM000681.2:g.35033438_35033448delinsGGGTCAGGTAA	GRCh38
NC_000019.9:g.35524342_35524352delinsGGGTCAGGTAA , CM000681.1:g.35524342_35524352delinsGGGTCAGGTAA	GRCh37
NC_000019.8:g.40216182_40216192delinsGGGTCAGGTAA	NCBI36
NG_013359.1:g.7751_7761delinsGGGTCAGGTAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000415950.5:c.208-61_208-51delinsGGGTCAGGTAA	ENSP00000396915.2:n.208-61_208-51delinsGGGTCAGGTAA
ENST00000262631.11:c.208-61_208-51delinsGGGTCAGGTAA MANE Select	ENSP00000262631.3:n.208-61_208-51delinsGGGTCAGGTAA
ENST00000415950.4:c.208-61_208-51delinsGGGTCAGGTAA	ENSP00000396915.2:n.208-61_208-51delinsGGGTCAGGTAA
ENST00000596348.2:c.109-61_109-51delinsGGGTCAGGTAA	ENSP00000492247.1:n.109-61_109-51delinsGGGTCAGGTAA
ENST00000638536.1:c.208-61_208-51delinsGGGTCAGGTAA	ENSP00000492022.1:n.208-61_208-51delinsGGGTCAGGTAA
ENST00000640135.1:c.109-61_109-51delinsGGGTCAGGTAA	ENSP00000492655.1:n.109-61_109-51delinsGGGTCAGGTAA
ENST00000675741.1:c.109-61_109-51delinsGGGTCAGGTAA	ENSP00000502395.1:n.109-61_109-51delinsGGGTCAGGTAA
ENST00000676410.1:c.109-61_109-51delinsGGGTCAGGTAA	ENSP00000502717.1:n.109-61_109-51delinsGGGTCAGGTAA
ENST00000262631.9:c.208-61_208-51delinsGGGTCAGGTAA	ENSP00000262631.3:n.208-61_208-51delinsGGGTCAGGTAA
ENST00000415950.3:c.208-61_208-51delinsGGGTCAGGTAA	ENSP00000396915.2:n.208-61_208-51delinsGGGTCAGGTAA
ENST00000595652.5:c.208-274_208-264delinsGGGTCAGGTAA	ENSP00000468848.1:n.208-274_208-264delinsGGGTCAGGTAA
ENST00000596348.1:n.217-61_217-51delinsGGGTCAGGTAA
NM_001037.4:c.208-61_208-51delinsGGGTCAGGTAA	NP_001028.1:n.208-61_208-51delinsGGGTCAGGTAA
NM_199037.3:c.208-61_208-51delinsGGGTCAGGTAA	NP_950238.1:n.208-61_208-51delinsGGGTCAGGTAA
XM_005259144.1:c.109-61_109-51delinsGGGTCAGGTAA	XP_005259201.1:n.109-61_109-51delinsGGGTCAGGTAA
NM_001321605.1:c.109-61_109-51delinsGGGTCAGGTAA	NP_001308534.1:n.109-61_109-51delinsGGGTCAGGTAA
NM_199037.4:c.208-61_208-51delinsGGGTCAGGTAA	NP_950238.1:n.208-61_208-51delinsGGGTCAGGTAA
NM_001037.5:c.208-61_208-51delinsGGGTCAGGTAA MANE Select	NP_001028.1:n.208-61_208-51delinsGGGTCAGGTAA
NM_001321605.2:c.109-61_109-51delinsGGGTCAGGTAA	NP_001308534.1:n.109-61_109-51delinsGGGTCAGGTAA
NM_199037.5:c.208-61_208-51delinsGGGTCAGGTAA	NP_950238.1:n.208-61_208-51delinsGGGTCAGGTAA