Canonical Allele Identifier: CA16620822
Gene: SCN1B HGNC NCBI
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.35032595del , CM000681.2:g.35032595del GRCh38
NC_000019.9:g.35523499del , CM000681.1:g.35523499del GRCh37
NC_000019.8:g.40215339del NCBI36
NG_013359.1:g.6908del

Transcript Alleles

HGVS Amino-acid Change
ENST00000415950.5:c.108del ENSP00000396915.2:p.Phe36LeufsTer?
ENST00000262631.11:c.108del MANE Select ENSP00000262631.3:p.Phe36LeufsTer?
ENST00000415950.4:c.108del ENSP00000396915.2:p.Phe36LeufsTer?
ENST00000596348.2:c.9del ENSP00000492247.1:p.Phe3LeufsTer?
ENST00000638536.1:c.108del ENSP00000492022.1:p.Phe36LeufsTer?
ENST00000640135.1:c.9del ENSP00000492655.1:p.Phe3LeufsTer?
ENST00000675741.1:c.9del ENSP00000502395.1:p.Phe3LeufsTer?
ENST00000676410.1:c.9del ENSP00000502717.1:p.Phe3LeufsTer?
ENST00000262631.9:c.108del ENSP00000262631.3:p.Phe36LeufsTer?
ENST00000415950.3:c.108del ENSP00000396915.2:p.Phe36LeufsTer?
ENST00000595652.5:c.108del ENSP00000468848.1:p.Phe36LeufsTer?
ENST00000596348.1:n.117del
NM_001037.4:c.108del NP_001028.1:p.Phe36LeufsTer?
NM_199037.3:c.108del NP_950238.1:p.Phe36LeufsTer?
XM_005259144.1:c.9del XP_005259201.1:p.Phe3LeufsTer?
NM_001321605.1:c.9del NP_001308534.1:p.Phe3LeufsTer?
NM_199037.4:c.108del NP_950238.1:p.Phe36LeufsTer?
NM_001037.5:c.108del MANE Select NP_001028.1:p.Phe36LeufsTer?
NM_001321605.2:c.9del NP_001308534.1:p.Phe3LeufsTer?
NM_199037.5:c.108del NP_950238.1:p.Phe36LeufsTer?
Search 100 bp 5'
Search 100 bp 3'