Canonical Allele Identifier: CA985438031
Gene: SCN4A HGNC NCBI

Linked Data

gnomAD v3: 17-63971852-TGGGGGG-T
gnomAD v4: 17-63971852-TGGGGGG-T
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.63971854_63971859del , CM000679.2:g.63971854_63971859del GRCh38
NC_000017.10:g.62049214_62049219del , CM000679.1:g.62049214_62049219del GRCh37
NC_000017.9:g.59402946_59402951del NCBI36
NG_011699.1:g.6061_6066del

Transcript Alleles

HGVS Amino-acid Change
ENST00000435607.3:c.483-8_483-3del MANE Select ENSP00000396320.1:n.483-8_483-3del
ENST00000578147.5:c.483-8_483-3del ENSP00000463963.1:n.483-8_483-3del
NM_000334.4:c.483-8_483-3del MANE Select NP_000325.4:n.483-8_483-3del
XM_005257566.3:c.483-8_483-3del XP_005257623.1:n.483-8_483-3del
Search 100 bp 5'
Search 100 bp 3'