Canonical Allele Identifier: CA2584414351

Gene: SCN1B

Linked Data

• gnomAD v4: 19-35033456-GAGGCCC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.35033461_35033466del , CM000681.2:g.35033461_35033466del	GRCh38
NC_000019.9:g.35524365_35524370del , CM000681.1:g.35524365_35524370del	GRCh37
NC_000019.8:g.40216205_40216210del	NCBI36
NG_013359.1:g.7774_7779del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000415950.5:c.208-38_208-33del	ENSP00000396915.2:n.208-38_208-33del
ENST00000262631.11:c.208-38_208-33del MANE Select	ENSP00000262631.3:n.208-38_208-33del
ENST00000415950.4:c.208-38_208-33del	ENSP00000396915.2:n.208-38_208-33del
ENST00000596348.2:c.109-38_109-33del	ENSP00000492247.1:n.109-38_109-33del
ENST00000638536.1:c.208-38_208-33del	ENSP00000492022.1:n.208-38_208-33del
ENST00000640135.1:c.109-38_109-33del	ENSP00000492655.1:n.109-38_109-33del
ENST00000675741.1:c.109-38_109-33del	ENSP00000502395.1:n.109-38_109-33del
ENST00000676410.1:c.109-38_109-33del	ENSP00000502717.1:n.109-38_109-33del
ENST00000262631.9:c.208-38_208-33del	ENSP00000262631.3:n.208-38_208-33del
ENST00000415950.3:c.208-38_208-33del	ENSP00000396915.2:n.208-38_208-33del
ENST00000595652.5:c.208-251_208-246del	ENSP00000468848.1:n.208-251_208-246del
ENST00000596348.1:n.217-38_217-33del
NM_001037.4:c.208-38_208-33del	NP_001028.1:n.208-38_208-33del
NM_199037.3:c.208-38_208-33del	NP_950238.1:n.208-38_208-33del
XM_005259144.1:c.109-38_109-33del	XP_005259201.1:n.109-38_109-33del
NM_001321605.1:c.109-38_109-33del	NP_001308534.1:n.109-38_109-33del
NM_199037.4:c.208-38_208-33del	NP_950238.1:n.208-38_208-33del
NM_001037.5:c.208-38_208-33del MANE Select	NP_001028.1:n.208-38_208-33del
NM_001321605.2:c.109-38_109-33del	NP_001308534.1:n.109-38_109-33del
NM_199037.5:c.208-38_208-33del	NP_950238.1:n.208-38_208-33del