Canonical Allele Identifier: CA2270162412

Gene: SCN4A

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63944367_63944369delinsGGT , CM000679.2:g.63944367_63944369delinsGGT	GRCh38
NC_000017.10:g.62021727_62021729delinsGGT , CM000679.1:g.62021727_62021729delinsGGT	GRCh37
NC_000017.9:g.59375459_59375461delinsGGT	NCBI36
NG_011699.1:g.33550_33552delinsACC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000435607.3:c.3912+304_3912+306delinsACC MANE Select	ENSP00000396320.1:n.3912+304_3912+306delinsACC
ENST00000578147.5:c.3916+300_3916+302delinsACC	ENSP00000463963.1:n.3916+300_3916+302delinsACC
NM_000334.4:c.3912+304_3912+306delinsACC MANE Select	NP_000325.4:n.3912+304_3912+306delinsACC
XM_005257566.3:c.3912+304_3912+306delinsACC	XP_005257623.1:n.3912+304_3912+306delinsACC