Canonical Allele Identifier: CA2333467172

Gene: SCN1B

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.35033953_35033954delinsTC , CM000681.2:g.35033953_35033954delinsTC	GRCh38
NC_000019.9:g.35524857_35524858delinsTC , CM000681.1:g.35524857_35524858delinsTC	GRCh37
NC_000019.8:g.40216697_40216698delinsTC	NCBI36
NG_013359.1:g.8266_8267delinsTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000415950.5:c.662_663delinsTC	ENSP00000396915.2:p.Val221=
ENST00000262631.11:c.448+214_448+215delinsTC MANE Select	ENSP00000262631.3:n.448+214_448+215delinsTC
ENST00000415950.4:c.662_663delinsTC	ENSP00000396915.2:p.Val221=
ENST00000596348.2:c.349+214_349+215delinsTC	ENSP00000492247.1:n.349+214_349+215delinsTC
ENST00000638536.1:c.448+214_448+215delinsTC	ENSP00000492022.1:n.448+214_448+215delinsTC
ENST00000640135.1:c.563_564delinsTC	ENSP00000492655.1:p.Val188=
ENST00000675741.1:c.349+214_349+215delinsTC	ENSP00000502395.1:n.349+214_349+215delinsTC
ENST00000676410.1:c.349+214_349+215delinsTC	ENSP00000502717.1:n.349+214_349+215delinsTC
ENST00000262631.9:c.448+214_448+215delinsTC	ENSP00000262631.3:n.448+214_448+215delinsTC
ENST00000415950.3:c.662_663delinsTC	ENSP00000396915.2:p.Val221=
ENST00000595652.5:c.235+214_235+215delinsTC	ENSP00000468848.1:n.235+214_235+215delinsTC
ENST00000596348.1:n.457+214_457+215delinsTC
NM_001037.4:c.448+214_448+215delinsTC	NP_001028.1:n.448+214_448+215delinsTC
NM_199037.3:c.662_663delinsTC	NP_950238.1:p.Val221=
XM_005259144.1:c.349+214_349+215delinsTC	XP_005259201.1:n.349+214_349+215delinsTC
NM_001321605.1:c.349+214_349+215delinsTC	NP_001308534.1:n.349+214_349+215delinsTC
NM_199037.4:c.662_663delinsTC	NP_950238.1:p.Val221=
NM_001037.5:c.448+214_448+215delinsTC MANE Select	NP_001028.1:n.448+214_448+215delinsTC
NM_001321605.2:c.349+214_349+215delinsTC	NP_001308534.1:n.349+214_349+215delinsTC
NM_199037.5:c.662_663delinsTC	NP_950238.1:p.Val221=