Canonical Allele Identifier: CA2270168711
Gene: SCN4A HGNC NCBI
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.63957527_63957531delinsCAGGG , CM000679.2:g.63957527_63957531delinsCAGGG GRCh38
NC_000017.10:g.62034887_62034891delinsCAGGG , CM000679.1:g.62034887_62034891delinsCAGGG GRCh37
NC_000017.9:g.59388619_59388623delinsCAGGG NCBI36
NG_011699.1:g.20388_20392delinsCCCTG

Transcript Alleles

HGVS Amino-acid change
ENST00000435607.3:c.2020-13_2020-9delinsCCCTG MANE Select ENSP00000396320.1:n.2020-13_2020-9delinsC...
ENST00000578147.5:c.2020-13_2020-9delinsCCCTG ENSP00000463963.1:n.2020-13_2020-9delinsC...
NM_000334.4:c.2020-13_2020-9delinsCCCTG MANE Select NP_000325.4:n.2020-13_2020-9delinsCCCTG
XM_005257566.3:c.2020-13_2020-9delinsCCCTG XP_005257623.1:n.2020-13_2020-9delinsCCCT...
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