Canonical Allele Identifier: CA633056467

Gene: SCN1B

Linked Data

• dbSNP Id: rs1456349088
• gnomAD v2: 19-35524355-GAAGAGAGGC-G
• gnomAD v4: 19-35033451-GAAGAGAGGC-G
• MyVariant Identifiers: chr19:g.35524356_35524364del (hg19) ; chr19:g.35033452_35033460del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.35033452_35033460del , CM000681.2:g.35033452_35033460del	GRCh38
NC_000019.9:g.35524356_35524364del , CM000681.1:g.35524356_35524364del	GRCh37
NC_000019.8:g.40216196_40216204del	NCBI36
NG_013359.1:g.7765_7773del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000415950.5:c.208-47_208-39del	ENSP00000396915.2:n.208-47_208-39del
ENST00000262631.11:c.208-47_208-39del MANE Select	ENSP00000262631.3:n.208-47_208-39del
ENST00000415950.4:c.208-47_208-39del	ENSP00000396915.2:n.208-47_208-39del
ENST00000596348.2:c.109-47_109-39del	ENSP00000492247.1:n.109-47_109-39del
ENST00000638536.1:c.208-47_208-39del	ENSP00000492022.1:n.208-47_208-39del
ENST00000640135.1:c.109-47_109-39del	ENSP00000492655.1:n.109-47_109-39del
ENST00000675741.1:c.109-47_109-39del	ENSP00000502395.1:n.109-47_109-39del
ENST00000676410.1:c.109-47_109-39del	ENSP00000502717.1:n.109-47_109-39del
ENST00000262631.9:c.208-47_208-39del	ENSP00000262631.3:n.208-47_208-39del
ENST00000415950.3:c.208-47_208-39del	ENSP00000396915.2:n.208-47_208-39del
ENST00000595652.5:c.208-260_208-252del	ENSP00000468848.1:n.208-260_208-252del
ENST00000596348.1:n.217-47_217-39del
NM_001037.4:c.208-47_208-39del	NP_001028.1:n.208-47_208-39del
NM_199037.3:c.208-47_208-39del	NP_950238.1:n.208-47_208-39del
XM_005259144.1:c.109-47_109-39del	XP_005259201.1:n.109-47_109-39del
NM_001321605.1:c.109-47_109-39del	NP_001308534.1:n.109-47_109-39del
NM_199037.4:c.208-47_208-39del	NP_950238.1:n.208-47_208-39del
NM_001037.5:c.208-47_208-39del MANE Select	NP_001028.1:n.208-47_208-39del
NM_001321605.2:c.109-47_109-39del	NP_001308534.1:n.109-47_109-39del
NM_199037.5:c.208-47_208-39del	NP_950238.1:n.208-47_208-39del