Canonical Allele Identifier: CA915942889
Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 690430
ClinVar RCV Id: RCV000851368

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.166036271_166038106delinsTTTTGCCAACTT , CM000664.2:g.166036271_166038106delinsTTTTGCCAACTT GRCh38
NC_000002.11:g.166892781_166894616delinsTTTTGCCAACTT , CM000664.1:g.166892781_166894616delinsTTTTGCCAACTT GRCh37
NC_000002.10:g.166601027_166602862delinsTTTTGCCAACTT NCBI36
NG_011906.1:g.40534_42369delinsAAGTTGGCAAAA , LRG_8:g.40534_42369delinsAAGTTGGCAAAA

Transcript Alleles

HGVS Amino-acid change
ENST00000689288.1:c.*652_*1242delinsAAGTTGGCAAAA
ENST00000303395.9:c.2616_3206delinsAAGTTGGCAAAA
ENST00000635750.1:c.2583_3173delinsAAGTTGGCAAAA
ENST00000635776.1:c.2583_3173delinsAAGTTGGCAAAA
ENST00000636194.1:c.*109_*699delinsAAGTTGGCAAAA
ENST00000637968.1:n.2868_3458delinsAAGTTGGCAAAA
ENST00000637988.1:c.2583_3173delinsAAGTTGGCAAAA
ENST00000640036.1:c.2583_3173delinsAAGTTGGCAAAA
ENST00000641575.1:c.2580_3170delinsAAGTTGGCAAAA
ENST00000641603.1:c.2616_3206delinsAAGTTGGCAAAA
ENST00000641996.1:c.*2170_*2760delinsAAGTTGGCAAAA
ENST00000671940.1:c.*559_*1149delinsAAGTTGGCAAAA
ENST00000673490.1:n.5089_5679delinsAAGTTGGCAAAA
ENST00000674923.1:c.2616_3206delinsAAGTTGGCAAAA
ENST00000303395.8:c.2616_3206delinsAAGTTGGCAAAA
ENST00000375405.7:c.2583_3173delinsAAGTTGGCAAAA
ENST00000409050.1:c.2532_3122delinsAAGTTGGCAAAA
ENST00000423058.6:c.2616_3206delinsAAGTTGGCAAAA
NM_001165963.1:c.2616_3206delinsAAGTTGGCAAAA
NM_001165964.1:c.2532_3122delinsAAGTTGGCAAAA
NM_001202435.1:c.2616_3206delinsAAGTTGGCAAAA
NM_006920.4:c.2583_3173delinsAAGTTGGCAAAA , LRG_8t1:c.2583_3173delinsAAGTTGGCAAAA
XM_011511598.1:c.2616_3206delinsAAGTTGGCAAAA
XM_011511599.1:c.2616_3206delinsAAGTTGGCAAAA
XM_011511600.1:c.2616_3206delinsAAGTTGGCAAAA
XM_011511601.1:c.2616_3206delinsAAGTTGGCAAAA
XM_011511602.1:c.2616_3206delinsAAGTTGGCAAAA
XM_011511603.1:c.2613_3203delinsAAGTTGGCAAAA
XM_011511604.1:c.2583_3173delinsAAGTTGGCAAAA
XM_011511605.1:c.2580_3170delinsAAGTTGGCAAAA
XM_011511606.1:c.2532_3122delinsAAGTTGGCAAAA
XM_011511607.1:c.2616_3206delinsAAGTTGGCAAAA
XR_922981.1:n.2800_3390delinsAAGTTGGCAAAA
NM_001165963.2:c.2616_3206delinsAAGTTGGCAAAA
NM_001165964.2:c.2532_3122delinsAAGTTGGCAAAA
NM_001202435.2:c.2616_3206delinsAAGTTGGCAAAA
NM_001353948.1:c.2616_3206delinsAAGTTGGCAAAA
NM_001353949.1:c.2583_3173delinsAAGTTGGCAAAA
NM_001353950.1:c.2583_3173delinsAAGTTGGCAAAA
NM_001353951.1:c.2583_3173delinsAAGTTGGCAAAA
NM_001353952.1:c.2583_3173delinsAAGTTGGCAAAA
NM_001353954.1:c.2580_3170delinsAAGTTGGCAAAA
NM_001353955.1:c.2580_3170delinsAAGTTGGCAAAA
NM_001353957.1:c.2532_3122delinsAAGTTGGCAAAA
NM_001353958.1:c.2532_3122delinsAAGTTGGCAAAA
NM_001353960.1:c.2529_3119delinsAAGTTGGCAAAA
NM_001353961.1:c.174_764delinsAAGTTGGCAAAA
NM_006920.5:c.2583_3173delinsAAGTTGGCAAAA
NR_148667.1:n.2988_3578delinsAAGTTGGCAAAA
XR_001738883.1:n.3002_3592delinsAAGTTGGCAAAA
XR_001738884.1:n.2974_3564delinsAAGTTGGCAAAA
NM_001165963.3:c.2616_3206delinsAAGTTGGCAAAA
NM_001165964.3:c.2532_3122delinsAAGTTGGCAAAA
NM_001202435.3:c.2616_3206delinsAAGTTGGCAAAA
NM_001353948.2:c.2616_3206delinsAAGTTGGCAAAA
NM_001353949.2:c.2583_3173delinsAAGTTGGCAAAA
NM_001353950.2:c.2583_3173delinsAAGTTGGCAAAA
NM_001353951.2:c.2583_3173delinsAAGTTGGCAAAA
NM_001353952.2:c.2583_3173delinsAAGTTGGCAAAA
NM_001353954.2:c.2580_3170delinsAAGTTGGCAAAA
NM_001353955.2:c.2580_3170delinsAAGTTGGCAAAA
NM_001353957.2:c.2532_3122delinsAAGTTGGCAAAA
NM_001353958.2:c.2532_3122delinsAAGTTGGCAAAA
NM_001353960.2:c.2529_3119delinsAAGTTGGCAAAA
NM_001353961.2:c.174_764delinsAAGTTGGCAAAA
NM_006920.6:c.2583_3173delinsAAGTTGGCAAAA
NR_148667.2:n.2969_3559delinsAAGTTGGCAAAA
NM_001165963.4:c.2616_3206delinsAAGTTGGCAAAA