Canonical Allele Identifier: CA626860723

Gene: SCN4A

Linked Data

• gnomAD v2: 17-62019358-G-GACCACGAAGTCAAAGATGTTCCAGCCAACGGTGAAGTAGTACTGGCGCA
• MyVariant Identifiers: chr17:g.62019358_62019359insACCACGAAGTCAAAGATGTTCCAGCCAACGGTGAAGTAGTACTGGCGCA (hg19) ; chr17:g.63941998_63941999insACCACGAAGTCAAAGATGTTCCAGCCAACGGTGAAGTAGTACTGGCGCA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63941998_63941999insACCACGAAGTCAAAGATGTTCCAGCCAACGGTGAAGTAGTACTGGCGCA , CM000679.2:g.63941998_63941999insACCACGAAGTCAAAGATGTTCCAGCCAACGGTGAAGTAGTACTGGCGCA	GRCh38
NC_000017.10:g.62019358_62019359insACCACGAAGTCAAAGATGTTCCAGCCAACGGTGAAGTAGTACTGGCGCA , CM000679.1:g.62019358_62019359insACCACGAAGTCAAAGATGTTCCAGCCAACGGTGAAGTAGTACTGGCGCA	GRCh37
NC_000017.9:g.59373090_59373091insACCACGAAGTCAAAGATGTTCCAGCCAACGGTGAAGTAGTACTGGCGCA	NCBI36
NG_011699.1:g.35920_35921insTGCGCCAGTACTACTTCACCGTTGGCTGGAACATCTTTGACTTCGTGGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000435607.3:c.4289-6_4289-5insTGCGCCAGTACTACTTCACCGTTGGCTGGAACATCTTTGACTTCGTGGT MANE Select	ENSP00000396320.1:n.4289-6_4289-5insTGCGCCAGTACTACTTCACCGTTGG...
ENST00000578147.5:c.4289-6_4289-5insTGCGCCAGTACTACTTCACCGTTGGCTGGAACATCTTTGACTTCGTGGT	ENSP00000463963.1:n.4289-6_4289-5insTGCGCCAGTACTACTTCACCGTTGG...
NM_000334.4:c.4289-6_4289-5insTGCGCCAGTACTACTTCACCGTTGGCTGGAACATCTTTGACTTCGTGGT MANE Select	NP_000325.4:n.4289-6_4289-5insTGCGCCAGTACTACTTCACCGTTGGCTGGAA...
XM_005257566.3:c.4289-6_4289-5insTGCGCCAGTACTACTTCACCGTTGGCTGGAACATCTTTGACTTCGTGGT	XP_005257623.1:n.4289-6_4289-5insTGCGCCAGTACTACTTCACCGTTGGCTG...