Canonical Allele Identifier: CA2639314179

Gene: SCN4A

Linked Data

• gnomAD v4: 17-63947002-T-TCCCCCCAACCCCCCCCCCCCCCCAGGCCCCCAAAACCCCCCC

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63947007_63947008insCAACCCCCCCCCCCCCCCAGGCCCCCAAAACCCCCCCCCCCC , CM000679.2:g.63947007_63947008insCAACCCCCCCCCCCCCCCAGGCCCCCAAAACCCCCCCCCCCC	GRCh38
NC_000017.10:g.62024367_62024368insCAACCCCCCCCCCCCCCCAGGCCCCCAAAACCCCCCCCCCCC , CM000679.1:g.62024367_62024368insCAACCCCCCCCCCCCCCCAGGCCCCCAAAACCCCCCCCCCCC	GRCh37
NC_000017.9:g.59378099_59378100insCAACCCCCCCCCCCCCCCAGGCCCCCAAAACCCCCCCCCCCC	NCBI36
NG_011699.1:g.30916_30917insGGGGGGGTTTTGGGGGCCTGGGGGGGGGGGGGGGTTGGGGGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000435607.3:c.3441+42_3441+43insGGGGGGGTTTTGGGGGCCTGGGGGGGGGGGGGGGTTGGGGGG MANE Select	ENSP00000396320.1:n.3441+42_3441+43insGGGGGGGTTTTGGGGGCCTGGGG...
ENST00000578147.5:c.3441+42_3441+43insGGGGGGGTTTTGGGGGCCTGGGGGGGGGGGGGGGTTGGGGGG	ENSP00000463963.1:n.3441+42_3441+43insGGGGGGGTTTTGGGGGCCTGGGG...
NM_000334.4:c.3441+42_3441+43insGGGGGGGTTTTGGGGGCCTGGGGGGGGGGGGGGGTTGGGGGG MANE Select	NP_000325.4:n.3441+42_3441+43insGGGGGGGTTTTGGGGGCCTGGGGGGGGGG...
XM_005257566.3:c.3441+42_3441+43insGGGGGGGTTTTGGGGGCCTGGGGGGGGGGGGGGGTTGGGGGG	XP_005257623.1:n.3441+42_3441+43insGGGGGGGTTTTGGGGGCCTGGGGGGG...