Canonical Allele Identifier: CA2810128102
Gene: SCN4A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.63971868_63971869insTATCATTAAAAAAAAAAACA , CM000679.2:g.63971868_63971869insTATCATTAAAAAAAAAAACA GRCh38
NC_000017.10:g.62049228_62049229insTATCATTAAAAAAAAAAACA , CM000679.1:g.62049228_62049229insTATCATTAAAAAAAAAAACA GRCh37
NC_000017.9:g.59402960_59402961insTATCATTAAAAAAAAAAACA NCBI36
NG_011699.1:g.6050_6051insTGTTTTTTTTTTTAATGATA

Transcript Alleles

HGVS Amino-acid Change
ENST00000435607.3:c.483-19_483-18insTGTTTTTTTTTTTAATGATA MANE Select ENSP00000396320.1:n.483-19_483-18insTGTTTTTTTTTTTAATGATA
ENST00000578147.5:c.483-19_483-18insTGTTTTTTTTTTTAATGATA ENSP00000463963.1:n.483-19_483-18insTGTTTTTTTTTTTAATGATA
NM_000334.4:c.483-19_483-18insTGTTTTTTTTTTTAATGATA MANE Select NP_000325.4:n.483-19_483-18insTGTTTTTTTTTTTAATGATA
XM_005257566.3:c.483-19_483-18insTGTTTTTTTTTTTAATGATA XP_005257623.1:n.483-19_483-18insTGTTTTTTTTTTTAATGATA