Canonical Allele Identifier: CA1304858126
Gene: SCN1A HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.166039402_166039405delinsGCTT , CM000664.2:g.166039402_166039405delinsGCTT GRCh38
NC_000002.11:g.166895912_166895915delinsGCTT , CM000664.1:g.166895912_166895915delinsGCTT GRCh37
NC_000002.10:g.166604158_166604161delinsGCTT NCBI36
NG_011906.1:g.39235_39238delinsAAGC , LRG_8:g.39235_39238delinsAAGC

Transcript Alleles

HGVS Amino-acid Change
ENST00000689288.1:c.*625+18_*625+21delinsAAGC ENSP00000509637.1:n.*625+18_*625+21delinsAAGC
ENST00000303395.9:c.2589+18_2589+21delinsAAGC ENSP00000303540.4:n.2589+18_2589+21delinsAAGC
ENST00000635750.1:c.2556+18_2556+21delinsAAGC ENSP00000490799.1:n.2556+18_2556+21delinsAAGC
ENST00000635776.1:c.2556+18_2556+21delinsAAGC ENSP00000490692.1:n.2556+18_2556+21delinsAAGC
ENST00000636194.1:c.*82+18_*82+21delinsAAGC ENSP00000490288.1:n.*82+18_*82+21delinsAAGC
ENST00000636759.1:c.*2379+18_*2379+21delinsAAGC ENSP00000490895.1:n.*2379+18_*2379+21delinsAAGC
ENST00000637968.1:n.2841+18_2841+21delinsAAGC
ENST00000637988.1:c.2556+18_2556+21delinsAAGC ENSP00000490780.1:n.2556+18_2556+21delinsAAGC
ENST00000640036.1:c.2556+18_2556+21delinsAAGC ENSP00000491573.1:n.2556+18_2556+21delinsAAGC
ENST00000641575.1:c.2553+18_2553+21delinsAAGC ENSP00000492917.1:n.2553+18_2553+21delinsAAGC
ENST00000641603.1:c.2589+18_2589+21delinsAAGC ENSP00000492945.1:n.2589+18_2589+21delinsAAGC
ENST00000641996.1:c.*2143+18_*2143+21delinsAAGC ENSP00000493054.1:n.*2143+18_*2143+21delinsAAGC
ENST00000671940.1:c.*532+18_*532+21delinsAAGC ENSP00000500336.1:n.*532+18_*532+21delinsAAGC
ENST00000673490.1:n.5062+18_5062+21delinsAAGC
ENST00000674923.1:c.2589+18_2589+21delinsAAGC MANE Select ENSP00000501589.1:n.2589+18_2589+21delinsAAGC
ENST00000303395.8:c.2589+18_2589+21delinsAAGC ENSP00000303540.4:n.2589+18_2589+21delinsAAGC
ENST00000375405.7:c.2556+18_2556+21delinsAAGC ENSP00000364554.3:n.2556+18_2556+21delinsAAGC
ENST00000409050.1:c.2505+18_2505+21delinsAAGC ENSP00000386312.1:n.2505+18_2505+21delinsAAGC
ENST00000423058.6:c.2589+18_2589+21delinsAAGC ENSP00000407030.2:n.2589+18_2589+21delinsAAGC
NM_001165963.1:c.2589+18_2589+21delinsAAGC NP_001159435.1:n.2589+18_2589+21delinsAAGC
NM_001165964.1:c.2505+18_2505+21delinsAAGC NP_001159436.1:n.2505+18_2505+21delinsAAGC
NM_001202435.1:c.2589+18_2589+21delinsAAGC NP_001189364.1:n.2589+18_2589+21delinsAAGC
NM_006920.4:c.2556+18_2556+21delinsAAGC , LRG_8t1:c.2556+18_2556+21delinsAAGC NP_008851.3:n.2556+18_2556+21delinsAAGC
XM_011511598.1:c.2589+18_2589+21delinsAAGC XP_011509900.1:n.2589+18_2589+21delinsAAGC
XM_011511599.1:c.2589+18_2589+21delinsAAGC XP_011509901.1:n.2589+18_2589+21delinsAAGC
XM_011511600.1:c.2589+18_2589+21delinsAAGC XP_011509902.1:n.2589+18_2589+21delinsAAGC
XM_011511601.1:c.2589+18_2589+21delinsAAGC XP_011509903.1:n.2589+18_2589+21delinsAAGC
XM_011511602.1:c.2589+18_2589+21delinsAAGC XP_011509904.1:n.2589+18_2589+21delinsAAGC
XM_011511603.1:c.2586+18_2586+21delinsAAGC XP_011509905.1:n.2586+18_2586+21delinsAAGC
XM_011511604.1:c.2556+18_2556+21delinsAAGC XP_011509906.1:n.2556+18_2556+21delinsAAGC
XM_011511605.1:c.2553+18_2553+21delinsAAGC XP_011509907.1:n.2553+18_2553+21delinsAAGC
XM_011511606.1:c.2505+18_2505+21delinsAAGC XP_011509908.1:n.2505+18_2505+21delinsAAGC
XM_011511607.1:c.2589+18_2589+21delinsAAGC XP_011509909.1:n.2589+18_2589+21delinsAAGC
XR_922981.1:n.2773+18_2773+21delinsAAGC
NM_001165963.2:c.2589+18_2589+21delinsAAGC NP_001159435.1:n.2589+18_2589+21delinsAAGC
NM_001165964.2:c.2505+18_2505+21delinsAAGC NP_001159436.1:n.2505+18_2505+21delinsAAGC
NM_001202435.2:c.2589+18_2589+21delinsAAGC NP_001189364.1:n.2589+18_2589+21delinsAAGC
NM_001353948.1:c.2589+18_2589+21delinsAAGC NP_001340877.1:n.2589+18_2589+21delinsAAGC
NM_001353949.1:c.2556+18_2556+21delinsAAGC NP_001340878.1:n.2556+18_2556+21delinsAAGC
NM_001353950.1:c.2556+18_2556+21delinsAAGC NP_001340879.1:n.2556+18_2556+21delinsAAGC
NM_001353951.1:c.2556+18_2556+21delinsAAGC NP_001340880.1:n.2556+18_2556+21delinsAAGC
NM_001353952.1:c.2556+18_2556+21delinsAAGC NP_001340881.1:n.2556+18_2556+21delinsAAGC
NM_001353954.1:c.2553+18_2553+21delinsAAGC NP_001340883.1:n.2553+18_2553+21delinsAAGC
NM_001353955.1:c.2553+18_2553+21delinsAAGC NP_001340884.1:n.2553+18_2553+21delinsAAGC
NM_001353957.1:c.2505+18_2505+21delinsAAGC NP_001340886.1:n.2505+18_2505+21delinsAAGC
NM_001353958.1:c.2505+18_2505+21delinsAAGC NP_001340887.1:n.2505+18_2505+21delinsAAGC
NM_001353960.1:c.2502+18_2502+21delinsAAGC NP_001340889.1:n.2502+18_2502+21delinsAAGC
NM_001353961.1:c.147+18_147+21delinsAAGC NP_001340890.1:n.147+18_147+21delinsAAGC
NM_006920.5:c.2556+18_2556+21delinsAAGC NP_008851.3:n.2556+18_2556+21delinsAAGC
NR_148667.1:n.2961+18_2961+21delinsAAGC
XR_001738883.1:n.2975+18_2975+21delinsAAGC
XR_001738884.1:n.2947+18_2947+21delinsAAGC
NM_001165963.3:c.2589+18_2589+21delinsAAGC NP_001159435.1:n.2589+18_2589+21delinsAAGC
NM_001165964.3:c.2505+18_2505+21delinsAAGC NP_001159436.1:n.2505+18_2505+21delinsAAGC
NM_001202435.3:c.2589+18_2589+21delinsAAGC NP_001189364.1:n.2589+18_2589+21delinsAAGC
NM_001353948.2:c.2589+18_2589+21delinsAAGC NP_001340877.1:n.2589+18_2589+21delinsAAGC
NM_001353949.2:c.2556+18_2556+21delinsAAGC NP_001340878.1:n.2556+18_2556+21delinsAAGC
NM_001353950.2:c.2556+18_2556+21delinsAAGC NP_001340879.1:n.2556+18_2556+21delinsAAGC
NM_001353951.2:c.2556+18_2556+21delinsAAGC NP_001340880.1:n.2556+18_2556+21delinsAAGC
NM_001353952.2:c.2556+18_2556+21delinsAAGC NP_001340881.1:n.2556+18_2556+21delinsAAGC
NM_001353954.2:c.2553+18_2553+21delinsAAGC NP_001340883.1:n.2553+18_2553+21delinsAAGC
NM_001353955.2:c.2553+18_2553+21delinsAAGC NP_001340884.1:n.2553+18_2553+21delinsAAGC
NM_001353957.2:c.2505+18_2505+21delinsAAGC NP_001340886.1:n.2505+18_2505+21delinsAAGC
NM_001353958.2:c.2505+18_2505+21delinsAAGC NP_001340887.1:n.2505+18_2505+21delinsAAGC
NM_001353960.2:c.2502+18_2502+21delinsAAGC NP_001340889.1:n.2502+18_2502+21delinsAAGC
NM_001353961.2:c.147+18_147+21delinsAAGC NP_001340890.1:n.147+18_147+21delinsAAGC
NM_006920.6:c.2556+18_2556+21delinsAAGC NP_008851.3:n.2556+18_2556+21delinsAAGC
NR_148667.2:n.2942+18_2942+21delinsAAGC
NM_001165963.4:c.2589+18_2589+21delinsAAGC MANE Select NP_001159435.1:n.2589+18_2589+21delinsAAGC
Search 100 bp 5'
Search 100 bp 3'