Canonical Allele Identifier: CA2270162395

Gene: SCN4A

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63944327_63944328delinsTG , CM000679.2:g.63944327_63944328delinsTG	GRCh38
NC_000017.10:g.62021687_62021688delinsTG , CM000679.1:g.62021687_62021688delinsTG	GRCh37
NC_000017.9:g.59375419_59375420delinsTG	NCBI36
NG_011699.1:g.33591_33592delinsCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000435607.3:c.3912+345_3912+346delinsCA MANE Select	ENSP00000396320.1:n.3912+345_3912+346delinsCA
ENST00000578147.5:c.3916+341_3916+342delinsCA	ENSP00000463963.1:n.3916+341_3916+342delinsCA
NM_000334.4:c.3912+345_3912+346delinsCA MANE Select	NP_000325.4:n.3912+345_3912+346delinsCA
XM_005257566.3:c.3912+345_3912+346delinsCA	XP_005257623.1:n.3912+345_3912+346delinsCA