Canonical Allele Identifier: CA2333467040

Gene: SCN1B

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.35033670_35033673delinsCTCT , CM000681.2:g.35033670_35033673delinsCTCT	GRCh38
NC_000019.9:g.35524574_35524577delinsCTCT , CM000681.1:g.35524574_35524577delinsCTCT	GRCh37
NC_000019.8:g.40216414_40216417delinsCTCT	NCBI36
NG_013359.1:g.7983_7986delinsCTCT

Transcript Alleles

HGVS	Amino-acid change
ENST00000415950.5:c.379_382delinsCTCT	ENSP00000396915.2:p.Leu127=
ENST00000262631.11:c.379_382delinsCTCT MANE Select	ENSP00000262631.3:p.Leu127=
ENST00000415950.4:c.379_382delinsCTCT	ENSP00000396915.2:p.Leu127=
ENST00000596348.2:c.280_283delinsCTCT	ENSP00000492247.1:p.Leu94=
ENST00000638536.1:c.379_382delinsCTCT	ENSP00000492022.1:p.Leu127=
ENST00000640135.1:c.280_283delinsCTCT	ENSP00000492655.1:p.Leu94=
ENST00000675741.1:c.280_283delinsCTCT	ENSP00000502395.1:p.Leu94=
ENST00000676410.1:c.280_283delinsCTCT	ENSP00000502717.1:p.Leu94=
ENST00000262631.9:c.379_382delinsCTCT	ENSP00000262631.3:p.Leu127=
ENST00000415950.3:c.379_382delinsCTCT	ENSP00000396915.2:p.Leu127=
ENST00000595652.5:c.208-42_208-39delinsCTCT	ENSP00000468848.1:n.208-42_208-39delinsCTCT
ENST00000596348.1:n.388_391delinsCTCT
NM_001037.4:c.379_382delinsCTCT	NP_001028.1:p.Leu127=
NM_199037.3:c.379_382delinsCTCT	NP_950238.1:p.Leu127=
XM_005259144.1:c.280_283delinsCTCT	XP_005259201.1:p.Leu94=
NM_001321605.1:c.280_283delinsCTCT	NP_001308534.1:p.Leu94=
NM_199037.4:c.379_382delinsCTCT	NP_950238.1:p.Leu127=
NM_001037.5:c.379_382delinsCTCT MANE Select	NP_001028.1:p.Leu127=
NM_001321605.2:c.280_283delinsCTCT	NP_001308534.1:p.Leu94=
NM_199037.5:c.379_382delinsCTCT	NP_950238.1:p.Leu127=