Canonical Allele Identifier: CA2333467168

Gene: SCN1B

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.35033943_35033944delinsAG , CM000681.2:g.35033943_35033944delinsAG	GRCh38
NC_000019.9:g.35524847_35524848delinsAG , CM000681.1:g.35524847_35524848delinsAG	GRCh37
NC_000019.8:g.40216687_40216688delinsAG	NCBI36
NG_013359.1:g.8256_8257delinsAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000415950.5:c.652_653delinsAG	ENSP00000396915.2:p.Ser218=
ENST00000262631.11:c.448+204_448+205delinsAG MANE Select	ENSP00000262631.3:n.448+204_448+205delinsAG
ENST00000415950.4:c.652_653delinsAG	ENSP00000396915.2:p.Ser218=
ENST00000596348.2:c.349+204_349+205delinsAG	ENSP00000492247.1:n.349+204_349+205delinsAG
ENST00000638536.1:c.448+204_448+205delinsAG	ENSP00000492022.1:n.448+204_448+205delinsAG
ENST00000640135.1:c.553_554delinsAG	ENSP00000492655.1:p.Ser185=
ENST00000675741.1:c.349+204_349+205delinsAG	ENSP00000502395.1:n.349+204_349+205delinsAG
ENST00000676410.1:c.349+204_349+205delinsAG	ENSP00000502717.1:n.349+204_349+205delinsAG
ENST00000262631.9:c.448+204_448+205delinsAG	ENSP00000262631.3:n.448+204_448+205delinsAG
ENST00000415950.3:c.652_653delinsAG	ENSP00000396915.2:p.Ser218=
ENST00000595652.5:c.235+204_235+205delinsAG	ENSP00000468848.1:n.235+204_235+205delinsAG
ENST00000596348.1:n.457+204_457+205delinsAG
NM_001037.4:c.448+204_448+205delinsAG	NP_001028.1:n.448+204_448+205delinsAG
NM_199037.3:c.652_653delinsAG	NP_950238.1:p.Ser218=
XM_005259144.1:c.349+204_349+205delinsAG	XP_005259201.1:n.349+204_349+205delinsAG
NM_001321605.1:c.349+204_349+205delinsAG	NP_001308534.1:n.349+204_349+205delinsAG
NM_199037.4:c.652_653delinsAG	NP_950238.1:p.Ser218=
NM_001037.5:c.448+204_448+205delinsAG MANE Select	NP_001028.1:n.448+204_448+205delinsAG
NM_001321605.2:c.349+204_349+205delinsAG	NP_001308534.1:n.349+204_349+205delinsAG
NM_199037.5:c.652_653delinsAG	NP_950238.1:p.Ser218=