Canonical Allele Identifier: CA2333467153

Gene: SCN1B

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.35033904_35033905delinsCT , CM000681.2:g.35033904_35033905delinsCT	GRCh38
NC_000019.9:g.35524808_35524809delinsCT , CM000681.1:g.35524808_35524809delinsCT	GRCh37
NC_000019.8:g.40216648_40216649delinsCT	NCBI36
NG_013359.1:g.8217_8218delinsCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000415950.5:c.613_614delinsCT	ENSP00000396915.2:p.Leu205=
ENST00000262631.11:c.448+165_448+166delinsCT MANE Select	ENSP00000262631.3:n.448+165_448+166delinsCT
ENST00000415950.4:c.613_614delinsCT	ENSP00000396915.2:p.Leu205=
ENST00000596348.2:c.349+165_349+166delinsCT	ENSP00000492247.1:n.349+165_349+166delinsCT
ENST00000638536.1:c.448+165_448+166delinsCT	ENSP00000492022.1:n.448+165_448+166delinsCT
ENST00000640135.1:c.514_515delinsCT	ENSP00000492655.1:p.Leu172=
ENST00000675741.1:c.349+165_349+166delinsCT	ENSP00000502395.1:n.349+165_349+166delinsCT
ENST00000676410.1:c.349+165_349+166delinsCT	ENSP00000502717.1:n.349+165_349+166delinsCT
ENST00000262631.9:c.448+165_448+166delinsCT	ENSP00000262631.3:n.448+165_448+166delinsCT
ENST00000415950.3:c.613_614delinsCT	ENSP00000396915.2:p.Leu205=
ENST00000595652.5:c.235+165_235+166delinsCT	ENSP00000468848.1:n.235+165_235+166delinsCT
ENST00000596348.1:n.457+165_457+166delinsCT
NM_001037.4:c.448+165_448+166delinsCT	NP_001028.1:n.448+165_448+166delinsCT
NM_199037.3:c.613_614delinsCT	NP_950238.1:p.Leu205=
XM_005259144.1:c.349+165_349+166delinsCT	XP_005259201.1:n.349+165_349+166delinsCT
NM_001321605.1:c.349+165_349+166delinsCT	NP_001308534.1:n.349+165_349+166delinsCT
NM_199037.4:c.613_614delinsCT	NP_950238.1:p.Leu205=
NM_001037.5:c.448+165_448+166delinsCT MANE Select	NP_001028.1:n.448+165_448+166delinsCT
NM_001321605.2:c.349+165_349+166delinsCT	NP_001308534.1:n.349+165_349+166delinsCT
NM_199037.5:c.613_614delinsCT	NP_950238.1:p.Leu205=