Canonical Allele Identifier: CA995438223

Gene: SCN1B

Linked Data

• dbSNP Id: rs2064219078
• gnomAD v3: 19-35032347-GGAAAC-G
• gnomAD v4: 19-35032347-GGAAAC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.35032348_35032352del , CM000681.2:g.35032348_35032352del	GRCh38
NC_000019.9:g.35523252_35523256del , CM000681.1:g.35523252_35523256del	GRCh37
NC_000019.8:g.40215092_40215096del	NCBI36
NG_013359.1:g.6661_6665del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000415950.5:c.41-180_41-176del	ENSP00000396915.2:n.41-180_41-176del
ENST00000262631.11:c.41-180_41-176del MANE Select	ENSP00000262631.3:n.41-180_41-176del
ENST00000415950.4:c.41-180_41-176del	ENSP00000396915.2:n.41-180_41-176del
ENST00000596348.2:c.-59-180_-59-176del	ENSP00000492247.1:n.-59-180_-59-176del
ENST00000638536.1:c.41-180_41-176del	ENSP00000492022.1:n.41-180_41-176del
ENST00000640135.1:c.-59-180_-59-176del	ENSP00000492655.1:n.-59-180_-59-176del
ENST00000675741.1:c.-239_-235del	ENSP00000502395.1:n.-239_-235del
ENST00000676410.1:c.-239_-235del	ENSP00000502717.1:n.-239_-235del
ENST00000262631.9:c.41-180_41-176del	ENSP00000262631.3:n.41-180_41-176del
ENST00000415950.3:c.41-180_41-176del	ENSP00000396915.2:n.41-180_41-176del
ENST00000595652.5:c.41-180_41-176del	ENSP00000468848.1:n.41-180_41-176del
ENST00000596348.1:n.50-180_50-176del
NM_001037.4:c.41-180_41-176del	NP_001028.1:n.41-180_41-176del
NM_199037.3:c.41-180_41-176del	NP_950238.1:n.41-180_41-176del
XM_005259144.1:c.-59-180_-59-176del	XP_005259201.1:n.-59-180_-59-176del
NM_001321605.1:c.-59-180_-59-176del	NP_001308534.1:n.-59-180_-59-176del
NM_199037.4:c.41-180_41-176del	NP_950238.1:n.41-180_41-176del
NM_001037.5:c.41-180_41-176del MANE Select	NP_001028.1:n.41-180_41-176del
NM_001321605.2:c.-59-180_-59-176del	NP_001308534.1:n.-59-180_-59-176del
NM_199037.5:c.41-180_41-176del	NP_950238.1:n.41-180_41-176del