Canonical Allele Identifier: CA2333466959
Gene: SCN1B HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.35033491_35033492delinsAC , CM000681.2:g.35033491_35033492delinsAC GRCh38
NC_000019.9:g.35524395_35524396delinsAC , CM000681.1:g.35524395_35524396delinsAC GRCh37
NC_000019.8:g.40216235_40216236delinsAC NCBI36
NG_013359.1:g.7804_7805delinsAC

Transcript Alleles

HGVS Amino-acid Change
ENST00000415950.5:c.208-8_208-7delinsAC ENSP00000396915.2:n.208-8_208-7delinsAC
ENST00000262631.11:c.208-8_208-7delinsAC MANE Select ENSP00000262631.3:n.208-8_208-7delinsAC
ENST00000415950.4:c.208-8_208-7delinsAC ENSP00000396915.2:n.208-8_208-7delinsAC
ENST00000596348.2:c.109-8_109-7delinsAC ENSP00000492247.1:n.109-8_109-7delinsAC
ENST00000638536.1:c.208-8_208-7delinsAC ENSP00000492022.1:n.208-8_208-7delinsAC
ENST00000640135.1:c.109-8_109-7delinsAC ENSP00000492655.1:n.109-8_109-7delinsAC
ENST00000675741.1:c.109-8_109-7delinsAC ENSP00000502395.1:n.109-8_109-7delinsAC
ENST00000676410.1:c.109-8_109-7delinsAC ENSP00000502717.1:n.109-8_109-7delinsAC
ENST00000262631.9:c.208-8_208-7delinsAC ENSP00000262631.3:n.208-8_208-7delinsAC
ENST00000415950.3:c.208-8_208-7delinsAC ENSP00000396915.2:n.208-8_208-7delinsAC
ENST00000595652.5:c.208-221_208-220delinsAC ENSP00000468848.1:n.208-221_208-220delinsAC
ENST00000596348.1:n.217-8_217-7delinsAC
NM_001037.4:c.208-8_208-7delinsAC NP_001028.1:n.208-8_208-7delinsAC
NM_199037.3:c.208-8_208-7delinsAC NP_950238.1:n.208-8_208-7delinsAC
XM_005259144.1:c.109-8_109-7delinsAC XP_005259201.1:n.109-8_109-7delinsAC
NM_001321605.1:c.109-8_109-7delinsAC NP_001308534.1:n.109-8_109-7delinsAC
NM_199037.4:c.208-8_208-7delinsAC NP_950238.1:n.208-8_208-7delinsAC
NM_001037.5:c.208-8_208-7delinsAC MANE Select NP_001028.1:n.208-8_208-7delinsAC
NM_001321605.2:c.109-8_109-7delinsAC NP_001308534.1:n.109-8_109-7delinsAC
NM_199037.5:c.208-8_208-7delinsAC NP_950238.1:n.208-8_208-7delinsAC