Canonical Allele Identifier: CA2333467134

Gene: SCN1B

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.35033869_35033870delinsAG , CM000681.2:g.35033869_35033870delinsAG	GRCh38
NC_000019.9:g.35524773_35524774delinsAG , CM000681.1:g.35524773_35524774delinsAG	GRCh37
NC_000019.8:g.40216613_40216614delinsAG	NCBI36
NG_013359.1:g.8182_8183delinsAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000415950.5:c.578_579delinsAG	ENSP00000396915.2:p.Glu193=
ENST00000262631.11:c.448+130_448+131delinsAG MANE Select	ENSP00000262631.3:n.448+130_448+131delinsAG
ENST00000415950.4:c.578_579delinsAG	ENSP00000396915.2:p.Glu193=
ENST00000596348.2:c.349+130_349+131delinsAG	ENSP00000492247.1:n.349+130_349+131delinsAG
ENST00000638536.1:c.448+130_448+131delinsAG	ENSP00000492022.1:n.448+130_448+131delinsAG
ENST00000640135.1:c.479_480delinsAG	ENSP00000492655.1:p.Glu160=
ENST00000675741.1:c.349+130_349+131delinsAG	ENSP00000502395.1:n.349+130_349+131delinsAG
ENST00000676410.1:c.349+130_349+131delinsAG	ENSP00000502717.1:n.349+130_349+131delinsAG
ENST00000262631.9:c.448+130_448+131delinsAG	ENSP00000262631.3:n.448+130_448+131delinsAG
ENST00000415950.3:c.578_579delinsAG	ENSP00000396915.2:p.Glu193=
ENST00000595652.5:c.235+130_235+131delinsAG	ENSP00000468848.1:n.235+130_235+131delinsAG
ENST00000596348.1:n.457+130_457+131delinsAG
NM_001037.4:c.448+130_448+131delinsAG	NP_001028.1:n.448+130_448+131delinsAG
NM_199037.3:c.578_579delinsAG	NP_950238.1:p.Glu193=
XM_005259144.1:c.349+130_349+131delinsAG	XP_005259201.1:n.349+130_349+131delinsAG
NM_001321605.1:c.349+130_349+131delinsAG	NP_001308534.1:n.349+130_349+131delinsAG
NM_199037.4:c.578_579delinsAG	NP_950238.1:p.Glu193=
NM_001037.5:c.448+130_448+131delinsAG MANE Select	NP_001028.1:n.448+130_448+131delinsAG
NM_001321605.2:c.349+130_349+131delinsAG	NP_001308534.1:n.349+130_349+131delinsAG
NM_199037.5:c.578_579delinsAG	NP_950238.1:p.Glu193=