Canonical Allele Identifier: CA2576751274

Gene: SCN1B

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.35033960_35033961del , CM000681.2:g.35033960_35033961del	GRCh38
NC_000019.9:g.35524864_35524865del , CM000681.1:g.35524864_35524865del	GRCh37
NC_000019.8:g.40216704_40216705del	NCBI36
NG_013359.1:g.8273_8274del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000415950.5:c.669_670del	ENSP00000396915.2:p.His223GlnfsTer?
ENST00000262631.11:c.448+221_448+222del MANE Select	ENSP00000262631.3:n.448+221_448+222del
ENST00000415950.4:c.669_670del	ENSP00000396915.2:p.His223GlnfsTer?
ENST00000596348.2:c.349+221_349+222del	ENSP00000492247.1:n.349+221_349+222del
ENST00000638536.1:c.448+221_448+222del	ENSP00000492022.1:n.448+221_448+222del
ENST00000640135.1:c.570_571del	ENSP00000492655.1:p.His190GlnfsTer?
ENST00000675741.1:c.349+221_349+222del	ENSP00000502395.1:n.349+221_349+222del
ENST00000676410.1:c.349+221_349+222del	ENSP00000502717.1:n.349+221_349+222del
ENST00000262631.9:c.448+221_448+222del	ENSP00000262631.3:n.448+221_448+222del
ENST00000415950.3:c.669_670del	ENSP00000396915.2:p.His223GlnfsTer?
ENST00000595652.5:c.235+221_235+222del	ENSP00000468848.1:n.235+221_235+222del
ENST00000596348.1:n.457+221_457+222del
NM_001037.4:c.448+221_448+222del	NP_001028.1:n.448+221_448+222del
NM_199037.3:c.669_670del	NP_950238.1:p.His223GlnfsTer?
XM_005259144.1:c.349+221_349+222del	XP_005259201.1:n.349+221_349+222del
NM_001321605.1:c.349+221_349+222del	NP_001308534.1:n.349+221_349+222del
NM_199037.4:c.669_670del	NP_950238.1:p.His223GlnfsTer?
NM_001037.5:c.448+221_448+222del MANE Select	NP_001028.1:n.448+221_448+222del
NM_001321605.2:c.349+221_349+222del	NP_001308534.1:n.349+221_349+222del
NM_199037.5:c.669_670del	NP_950238.1:p.His223GlnfsTer?