Canonical Allele Identifier: CA2270161350
Gene: SCN4A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.63942258_63942278delinsGGTGTGTGTGTGTGTGTGTGT , CM000679.2:g.63942258_63942278delinsGGTGTGTGTGTGTGTGTGTGT GRCh38
NC_000017.10:g.62019618_62019638delinsGGTGTGTGTGTGTGTGTGTGT , CM000679.1:g.62019618_62019638delinsGGTGTGTGTGTGTGTGTGTGT GRCh37
NC_000017.9:g.59373350_59373370delinsGGTGTGTGTGTGTGTGTGTGT NCBI36
NG_011699.1:g.35641_35661delinsACACACACACACACACACACC

Transcript Alleles

HGVS Amino-acid Change
ENST00000435607.3:c.4289-285_4289-265delinsACACACACACACACACACACC MANE Select ENSP00000396320.1:n.4289-285_4289-265delinsACACACACACACACACAC...
ENST00000578147.5:c.4289-285_4289-265delinsACACACACACACACACACACC ENSP00000463963.1:n.4289-285_4289-265delinsACACACACACACACACAC...
NM_000334.4:c.4289-285_4289-265delinsACACACACACACACACACACC MANE Select NP_000325.4:n.4289-285_4289-265delinsACACACACACACACACACACC
XM_005257566.3:c.4289-285_4289-265delinsACACACACACACACACACACC XP_005257623.1:n.4289-285_4289-265delinsACACACACACACACACACACC...