Canonical Allele Identifier: CA1304838776

Gene: SCN1A

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.165994075_165994080delinsTGAATC , CM000664.2:g.165994075_165994080delinsTGAATC	GRCh38
NC_000002.11:g.166850585_166850590delinsTGAATC , CM000664.1:g.166850585_166850590delinsTGAATC	GRCh37
NC_000002.10:g.166558831_166558836delinsTGAATC	NCBI36
NG_011906.1:g.84560_84565delinsGATTCA , LRG_8:g.84560_84565delinsGATTCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000689288.1:c.*2888+66_*2888+71delinsGATTCA	ENSP00000509637.1:n.*2888+66_*2888+71delinsGATTCA
ENST00000303395.9:c.4852+66_4852+71delinsGATTCA	ENSP00000303540.4:n.4852+66_4852+71delinsGATTCA
ENST00000635750.1:c.4819+66_4819+71delinsGATTCA	ENSP00000490799.1:n.4819+66_4819+71delinsGATTCA
ENST00000635776.1:c.*28_*33delinsGATTCA	ENSP00000490692.1:n.*28_*33delinsGATTCA
ENST00000636194.1:c.*2345+66_*2345+71delinsGATTCA	ENSP00000490288.1:n.*2345+66_*2345+71delinsGATTCA
ENST00000637038.1:c.1714+66_1714+71delinsGATTCA
ENST00000637988.1:c.4819+66_4819+71delinsGATTCA	ENSP00000490780.1:n.4819+66_4819+71delinsGATTCA
ENST00000640036.1:c.4819+66_4819+71delinsGATTCA	ENSP00000491573.1:n.4819+66_4819+71delinsGATTCA
ENST00000641575.1:c.4816+66_4816+71delinsGATTCA	ENSP00000492917.1:n.4816+66_4816+71delinsGATTCA
ENST00000641603.1:c.4570+66_4570+71delinsGATTCA	ENSP00000492945.1:n.4570+66_4570+71delinsGATTCA
ENST00000641996.1:c.*4406+66_*4406+71delinsGATTCA	ENSP00000493054.1:n.*4406+66_*4406+71delinsGATTCA
ENST00000671940.1:c.*2795+66_*2795+71delinsGATTCA	ENSP00000500336.1:n.*2795+66_*2795+71delinsGATTCA
ENST00000673490.1:n.7325+66_7325+71delinsGATTCA
ENST00000674923.1:c.4852+66_4852+71delinsGATTCA MANE Select	ENSP00000501589.1:n.4852+66_4852+71delinsGATTCA
ENST00000303395.8:c.4852+66_4852+71delinsGATTCA	ENSP00000303540.4:n.4852+66_4852+71delinsGATTCA
ENST00000375405.7:c.4819+66_4819+71delinsGATTCA	ENSP00000364554.3:n.4819+66_4819+71delinsGATTCA
ENST00000409050.1:c.4768+66_4768+71delinsGATTCA	ENSP00000386312.1:n.4768+66_4768+71delinsGATTCA
ENST00000423058.6:c.4852+66_4852+71delinsGATTCA	ENSP00000407030.2:n.4852+66_4852+71delinsGATTCA
NM_001165963.1:c.4852+66_4852+71delinsGATTCA	NP_001159435.1:n.4852+66_4852+71delinsGATTCA
NM_001165964.1:c.4768+66_4768+71delinsGATTCA	NP_001159436.1:n.4768+66_4768+71delinsGATTCA
NM_001202435.1:c.4852+66_4852+71delinsGATTCA	NP_001189364.1:n.4852+66_4852+71delinsGATTCA
NM_006920.4:c.4819+66_4819+71delinsGATTCA , LRG_8t1:c.4819+66_4819+71delinsGATTCA	NP_008851.3:n.4819+66_4819+71delinsGATTCA
NR_110598.1:n.176-21538_176-21533delinsTGAATC
XM_011511598.1:c.4852+66_4852+71delinsGATTCA	XP_011509900.1:n.4852+66_4852+71delinsGATTCA
XM_011511599.1:c.4852+66_4852+71delinsGATTCA	XP_011509901.1:n.4852+66_4852+71delinsGATTCA
XM_011511600.1:c.4852+66_4852+71delinsGATTCA	XP_011509902.1:n.4852+66_4852+71delinsGATTCA
XM_011511601.1:c.4852+66_4852+71delinsGATTCA	XP_011509903.1:n.4852+66_4852+71delinsGATTCA
XM_011511602.1:c.4852+66_4852+71delinsGATTCA	XP_011509904.1:n.4852+66_4852+71delinsGATTCA
XM_011511603.1:c.4849+66_4849+71delinsGATTCA	XP_011509905.1:n.4849+66_4849+71delinsGATTCA
XM_011511604.1:c.4819+66_4819+71delinsGATTCA	XP_011509906.1:n.4819+66_4819+71delinsGATTCA
XM_011511605.1:c.4816+66_4816+71delinsGATTCA	XP_011509907.1:n.4816+66_4816+71delinsGATTCA
XM_011511606.1:c.4768+66_4768+71delinsGATTCA	XP_011509908.1:n.4768+66_4768+71delinsGATTCA
XM_011511607.1:c.4570+66_4570+71delinsGATTCA	XP_011509909.1:n.4570+66_4570+71delinsGATTCA
NM_001165963.2:c.4852+66_4852+71delinsGATTCA	NP_001159435.1:n.4852+66_4852+71delinsGATTCA
NM_001165964.2:c.4768+66_4768+71delinsGATTCA	NP_001159436.1:n.4768+66_4768+71delinsGATTCA
NM_001202435.2:c.4852+66_4852+71delinsGATTCA	NP_001189364.1:n.4852+66_4852+71delinsGATTCA
NM_001353948.1:c.4852+66_4852+71delinsGATTCA	NP_001340877.1:n.4852+66_4852+71delinsGATTCA
NM_001353949.1:c.4819+66_4819+71delinsGATTCA	NP_001340878.1:n.4819+66_4819+71delinsGATTCA
NM_001353950.1:c.4819+66_4819+71delinsGATTCA	NP_001340879.1:n.4819+66_4819+71delinsGATTCA
NM_001353951.1:c.4819+66_4819+71delinsGATTCA	NP_001340880.1:n.4819+66_4819+71delinsGATTCA
NM_001353952.1:c.4819+66_4819+71delinsGATTCA	NP_001340881.1:n.4819+66_4819+71delinsGATTCA
NM_001353954.1:c.4816+66_4816+71delinsGATTCA	NP_001340883.1:n.4816+66_4816+71delinsGATTCA
NM_001353955.1:c.4816+66_4816+71delinsGATTCA	NP_001340884.1:n.4816+66_4816+71delinsGATTCA
NM_001353957.1:c.4768+66_4768+71delinsGATTCA	NP_001340886.1:n.4768+66_4768+71delinsGATTCA
NM_001353958.1:c.4768+66_4768+71delinsGATTCA	NP_001340887.1:n.4768+66_4768+71delinsGATTCA
NM_001353960.1:c.4765+66_4765+71delinsGATTCA	NP_001340889.1:n.4765+66_4765+71delinsGATTCA
NM_001353961.1:c.2410+66_2410+71delinsGATTCA	NP_001340890.1:n.2410+66_2410+71delinsGATTCA
NM_006920.5:c.4819+66_4819+71delinsGATTCA	NP_008851.3:n.4819+66_4819+71delinsGATTCA
NR_148667.1:n.5288+66_5288+71delinsGATTCA
XR_001738883.1:n.5302+66_5302+71delinsGATTCA
XR_001738884.1:n.5274+66_5274+71delinsGATTCA
NM_001165963.3:c.4852+66_4852+71delinsGATTCA	NP_001159435.1:n.4852+66_4852+71delinsGATTCA
NM_001165964.3:c.4768+66_4768+71delinsGATTCA	NP_001159436.1:n.4768+66_4768+71delinsGATTCA
NM_001202435.3:c.4852+66_4852+71delinsGATTCA	NP_001189364.1:n.4852+66_4852+71delinsGATTCA
NM_001353948.2:c.4852+66_4852+71delinsGATTCA	NP_001340877.1:n.4852+66_4852+71delinsGATTCA
NM_001353949.2:c.4819+66_4819+71delinsGATTCA	NP_001340878.1:n.4819+66_4819+71delinsGATTCA
NM_001353950.2:c.4819+66_4819+71delinsGATTCA	NP_001340879.1:n.4819+66_4819+71delinsGATTCA
NM_001353951.2:c.4819+66_4819+71delinsGATTCA	NP_001340880.1:n.4819+66_4819+71delinsGATTCA
NM_001353952.2:c.4819+66_4819+71delinsGATTCA	NP_001340881.1:n.4819+66_4819+71delinsGATTCA
NM_001353954.2:c.4816+66_4816+71delinsGATTCA	NP_001340883.1:n.4816+66_4816+71delinsGATTCA
NM_001353955.2:c.4816+66_4816+71delinsGATTCA	NP_001340884.1:n.4816+66_4816+71delinsGATTCA
NM_001353957.2:c.4768+66_4768+71delinsGATTCA	NP_001340886.1:n.4768+66_4768+71delinsGATTCA
NM_001353958.2:c.4768+66_4768+71delinsGATTCA	NP_001340887.1:n.4768+66_4768+71delinsGATTCA
NM_001353960.2:c.4765+66_4765+71delinsGATTCA	NP_001340889.1:n.4765+66_4765+71delinsGATTCA
NM_001353961.2:c.2410+66_2410+71delinsGATTCA	NP_001340890.1:n.2410+66_2410+71delinsGATTCA
NM_006920.6:c.4819+66_4819+71delinsGATTCA	NP_008851.3:n.4819+66_4819+71delinsGATTCA
NR_148667.2:n.5269+66_5269+71delinsGATTCA
NM_001165963.4:c.4852+66_4852+71delinsGATTCA MANE Select	NP_001159435.1:n.4852+66_4852+71delinsGATTCA