Canonical Allele Identifier: CA2639314831

Gene: SCN4A

Linked Data

• gnomAD v4: 17-63947009-T-TACCCCCCCCCCC

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63947009_63947010insACCCCCCCCCCC , CM000679.2:g.63947009_63947010insACCCCCCCCCCC	GRCh38
NC_000017.10:g.62024369_62024370insACCCCCCCCCCC , CM000679.1:g.62024369_62024370insACCCCCCCCCCC	GRCh37
NC_000017.9:g.59378101_59378102insACCCCCCCCCCC	NCBI36
NG_011699.1:g.30909_30910insGGGGGGGGGGGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000435607.3:c.3441+35_3441+36insGGGGGGGGGGGT MANE Select	ENSP00000396320.1:n.3441+35_3441+36insGGGGGGGGGGGT
ENST00000578147.5:c.3441+35_3441+36insGGGGGGGGGGGT	ENSP00000463963.1:n.3441+35_3441+36insGGGGGGGGGGGT
NM_000334.4:c.3441+35_3441+36insGGGGGGGGGGGT MANE Select	NP_000325.4:n.3441+35_3441+36insGGGGGGGGGGGT
XM_005257566.3:c.3441+35_3441+36insGGGGGGGGGGGT	XP_005257623.1:n.3441+35_3441+36insGGGGGGGGGGGT