Canonical Allele Identifier: CA2639311246
Gene: SCN4A HGNC NCBI

Linked Data

gnomAD v4: 17-63945268-CA-C
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.63945269del , CM000679.2:g.63945269del GRCh38
NC_000017.10:g.62022629del , CM000679.1:g.62022629del GRCh37
NC_000017.9:g.59376361del NCBI36
NG_011699.1:g.32650del

Transcript Alleles

HGVS Amino-acid Change
ENST00000435607.3:c.3720+91del MANE Select ENSP00000396320.1:n.3720+91del
ENST00000578147.5:c.3720+91del ENSP00000463963.1:n.3720+91del
NM_000334.4:c.3720+91del MANE Select NP_000325.4:n.3720+91del
XM_005257566.3:c.3720+91del XP_005257623.1:n.3720+91del
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