Canonical Allele Identifier: CA1304838786
Gene: SCN1A HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.165994106_165994110delinsTTTTA , CM000664.2:g.165994106_165994110delinsTTTTA GRCh38
NC_000002.11:g.166850616_166850620delinsTTTTA , CM000664.1:g.166850616_166850620delinsTTTTA GRCh37
NC_000002.10:g.166558862_166558866delinsTTTTA NCBI36
NG_011906.1:g.84530_84534delinsTAAAA , LRG_8:g.84530_84534delinsTAAAA

Transcript Alleles

HGVS Amino-acid Change
ENST00000689288.1:c.*2888+36_*2888+40delinsTAAAA ENSP00000509637.1:n.*2888+36_*2888+40delinsTAAAA
ENST00000303395.9:c.4852+36_4852+40delinsTAAAA ENSP00000303540.4:n.4852+36_4852+40delinsTAAAA
ENST00000635750.1:c.4819+36_4819+40delinsTAAAA ENSP00000490799.1:n.4819+36_4819+40delinsTAAAA
ENST00000635776.1:c.4855_*2delinsTAAAA ENSP00000490692.1:n.[c.4855_*2delinsTAAAA;Ter1619=]
ENST00000636194.1:c.*2345+36_*2345+40delinsTAAAA ENSP00000490288.1:n.*2345+36_*2345+40delinsTAAAA
ENST00000637038.1:c.1714+36_1714+40delinsTAAAA
ENST00000637988.1:c.4819+36_4819+40delinsTAAAA ENSP00000490780.1:n.4819+36_4819+40delinsTAAAA
ENST00000640036.1:c.4819+36_4819+40delinsTAAAA ENSP00000491573.1:n.4819+36_4819+40delinsTAAAA
ENST00000641575.1:c.4816+36_4816+40delinsTAAAA ENSP00000492917.1:n.4816+36_4816+40delinsTAAAA
ENST00000641603.1:c.4570+36_4570+40delinsTAAAA ENSP00000492945.1:n.4570+36_4570+40delinsTAAAA
ENST00000641996.1:c.*4406+36_*4406+40delinsTAAAA ENSP00000493054.1:n.*4406+36_*4406+40delinsTAAAA
ENST00000671940.1:c.*2795+36_*2795+40delinsTAAAA ENSP00000500336.1:n.*2795+36_*2795+40delinsTAAAA
ENST00000673490.1:n.7325+36_7325+40delinsTAAAA
ENST00000674923.1:c.4852+36_4852+40delinsTAAAA MANE Select ENSP00000501589.1:n.4852+36_4852+40delinsTAAAA
ENST00000303395.8:c.4852+36_4852+40delinsTAAAA ENSP00000303540.4:n.4852+36_4852+40delinsTAAAA
ENST00000375405.7:c.4819+36_4819+40delinsTAAAA ENSP00000364554.3:n.4819+36_4819+40delinsTAAAA
ENST00000409050.1:c.4768+36_4768+40delinsTAAAA ENSP00000386312.1:n.4768+36_4768+40delinsTAAAA
ENST00000423058.6:c.4852+36_4852+40delinsTAAAA ENSP00000407030.2:n.4852+36_4852+40delinsTAAAA
NM_001165963.1:c.4852+36_4852+40delinsTAAAA NP_001159435.1:n.4852+36_4852+40delinsTAAAA
NM_001165964.1:c.4768+36_4768+40delinsTAAAA NP_001159436.1:n.4768+36_4768+40delinsTAAAA
NM_001202435.1:c.4852+36_4852+40delinsTAAAA NP_001189364.1:n.4852+36_4852+40delinsTAAAA
NM_006920.4:c.4819+36_4819+40delinsTAAAA , LRG_8t1:c.4819+36_4819+40delinsTAAAA NP_008851.3:n.4819+36_4819+40delinsTAAAA
NR_110598.1:n.176-21507_176-21503delinsTTTTA
XM_011511598.1:c.4852+36_4852+40delinsTAAAA XP_011509900.1:n.4852+36_4852+40delinsTAAAA
XM_011511599.1:c.4852+36_4852+40delinsTAAAA XP_011509901.1:n.4852+36_4852+40delinsTAAAA
XM_011511600.1:c.4852+36_4852+40delinsTAAAA XP_011509902.1:n.4852+36_4852+40delinsTAAAA
XM_011511601.1:c.4852+36_4852+40delinsTAAAA XP_011509903.1:n.4852+36_4852+40delinsTAAAA
XM_011511602.1:c.4852+36_4852+40delinsTAAAA XP_011509904.1:n.4852+36_4852+40delinsTAAAA
XM_011511603.1:c.4849+36_4849+40delinsTAAAA XP_011509905.1:n.4849+36_4849+40delinsTAAAA
XM_011511604.1:c.4819+36_4819+40delinsTAAAA XP_011509906.1:n.4819+36_4819+40delinsTAAAA
XM_011511605.1:c.4816+36_4816+40delinsTAAAA XP_011509907.1:n.4816+36_4816+40delinsTAAAA
XM_011511606.1:c.4768+36_4768+40delinsTAAAA XP_011509908.1:n.4768+36_4768+40delinsTAAAA
XM_011511607.1:c.4570+36_4570+40delinsTAAAA XP_011509909.1:n.4570+36_4570+40delinsTAAAA
NM_001165963.2:c.4852+36_4852+40delinsTAAAA NP_001159435.1:n.4852+36_4852+40delinsTAAAA
NM_001165964.2:c.4768+36_4768+40delinsTAAAA NP_001159436.1:n.4768+36_4768+40delinsTAAAA
NM_001202435.2:c.4852+36_4852+40delinsTAAAA NP_001189364.1:n.4852+36_4852+40delinsTAAAA
NM_001353948.1:c.4852+36_4852+40delinsTAAAA NP_001340877.1:n.4852+36_4852+40delinsTAAAA
NM_001353949.1:c.4819+36_4819+40delinsTAAAA NP_001340878.1:n.4819+36_4819+40delinsTAAAA
NM_001353950.1:c.4819+36_4819+40delinsTAAAA NP_001340879.1:n.4819+36_4819+40delinsTAAAA
NM_001353951.1:c.4819+36_4819+40delinsTAAAA NP_001340880.1:n.4819+36_4819+40delinsTAAAA
NM_001353952.1:c.4819+36_4819+40delinsTAAAA NP_001340881.1:n.4819+36_4819+40delinsTAAAA
NM_001353954.1:c.4816+36_4816+40delinsTAAAA NP_001340883.1:n.4816+36_4816+40delinsTAAAA
NM_001353955.1:c.4816+36_4816+40delinsTAAAA NP_001340884.1:n.4816+36_4816+40delinsTAAAA
NM_001353957.1:c.4768+36_4768+40delinsTAAAA NP_001340886.1:n.4768+36_4768+40delinsTAAAA
NM_001353958.1:c.4768+36_4768+40delinsTAAAA NP_001340887.1:n.4768+36_4768+40delinsTAAAA
NM_001353960.1:c.4765+36_4765+40delinsTAAAA NP_001340889.1:n.4765+36_4765+40delinsTAAAA
NM_001353961.1:c.2410+36_2410+40delinsTAAAA NP_001340890.1:n.2410+36_2410+40delinsTAAAA
NM_006920.5:c.4819+36_4819+40delinsTAAAA NP_008851.3:n.4819+36_4819+40delinsTAAAA
NR_148667.1:n.5288+36_5288+40delinsTAAAA
XR_001738883.1:n.5302+36_5302+40delinsTAAAA
XR_001738884.1:n.5274+36_5274+40delinsTAAAA
NM_001165963.3:c.4852+36_4852+40delinsTAAAA NP_001159435.1:n.4852+36_4852+40delinsTAAAA
NM_001165964.3:c.4768+36_4768+40delinsTAAAA NP_001159436.1:n.4768+36_4768+40delinsTAAAA
NM_001202435.3:c.4852+36_4852+40delinsTAAAA NP_001189364.1:n.4852+36_4852+40delinsTAAAA
NM_001353948.2:c.4852+36_4852+40delinsTAAAA NP_001340877.1:n.4852+36_4852+40delinsTAAAA
NM_001353949.2:c.4819+36_4819+40delinsTAAAA NP_001340878.1:n.4819+36_4819+40delinsTAAAA
NM_001353950.2:c.4819+36_4819+40delinsTAAAA NP_001340879.1:n.4819+36_4819+40delinsTAAAA
NM_001353951.2:c.4819+36_4819+40delinsTAAAA NP_001340880.1:n.4819+36_4819+40delinsTAAAA
NM_001353952.2:c.4819+36_4819+40delinsTAAAA NP_001340881.1:n.4819+36_4819+40delinsTAAAA
NM_001353954.2:c.4816+36_4816+40delinsTAAAA NP_001340883.1:n.4816+36_4816+40delinsTAAAA
NM_001353955.2:c.4816+36_4816+40delinsTAAAA NP_001340884.1:n.4816+36_4816+40delinsTAAAA
NM_001353957.2:c.4768+36_4768+40delinsTAAAA NP_001340886.1:n.4768+36_4768+40delinsTAAAA
NM_001353958.2:c.4768+36_4768+40delinsTAAAA NP_001340887.1:n.4768+36_4768+40delinsTAAAA
NM_001353960.2:c.4765+36_4765+40delinsTAAAA NP_001340889.1:n.4765+36_4765+40delinsTAAAA
NM_001353961.2:c.2410+36_2410+40delinsTAAAA NP_001340890.1:n.2410+36_2410+40delinsTAAAA
NM_006920.6:c.4819+36_4819+40delinsTAAAA NP_008851.3:n.4819+36_4819+40delinsTAAAA
NR_148667.2:n.5269+36_5269+40delinsTAAAA
NM_001165963.4:c.4852+36_4852+40delinsTAAAA MANE Select NP_001159435.1:n.4852+36_4852+40delinsTAAAA
Search 100 bp 5'
Search 100 bp 3'