Canonical Allele Identifier: CA2270175898
Gene: SCN4A HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.63972534_63972538delinsGCAGA , CM000679.2:g.63972534_63972538delinsGCAGA GRCh38
NC_000017.10:g.62049894_62049898delinsGCAGA , CM000679.1:g.62049894_62049898delinsGCAGA GRCh37
NC_000017.9:g.59403626_59403630delinsGCAGA NCBI36
NG_011699.1:g.5381_5385delinsTCTGC

Transcript Alleles

HGVS Amino-acid change
ENST00000435607.3:c.273+31_273+35delinsTCTGC MANE Select ENSP00000396320.1:n.273+31_273+35delinsTC...
ENST00000578147.5:c.273+31_273+35delinsTCTGC ENSP00000463963.1:n.273+31_273+35delinsTC...
NM_000334.4:c.273+31_273+35delinsTCTGC MANE Select NP_000325.4:n.273+31_273+35delinsTCTGC
XM_005257566.3:c.273+31_273+35delinsTCTGC XP_005257623.1:n.273+31_273+35delinsTCTGC...
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