Canonical Allele Identifier: CA2753027162

Gene: SCN1A

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.166039424_166039425insTT , CM000664.2:g.166039424_166039425insTT	GRCh38
NC_000002.11:g.166895934_166895935insTT , CM000664.1:g.166895934_166895935insTT	GRCh37
NC_000002.10:g.166604180_166604181insTT	NCBI36
NG_011906.1:g.39215_39216insAA , LRG_8:g.39215_39216insAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000689288.1:c.*623_*624insAA	ENSP00000509637.1:n.*623_*624insAA
ENST00000303395.9:c.2587_2588insAA	ENSP00000303540.4:p.Leu863Ter
ENST00000635750.1:c.2554_2555insAA	ENSP00000490799.1:p.Leu852Ter
ENST00000635776.1:c.2554_2555insAA	ENSP00000490692.1:p.Leu852Ter
ENST00000636194.1:c.*80_*81insAA	ENSP00000490288.1:n.*80_*81insAA
ENST00000636759.1:c.*2377_*2378insAA	ENSP00000490895.1:n.*2377_*2378insAA
ENST00000637968.1:n.2839_2840insAA
ENST00000637988.1:c.2554_2555insAA	ENSP00000490780.1:p.Leu852Ter
ENST00000640036.1:c.2554_2555insAA	ENSP00000491573.1:p.Leu852Ter
ENST00000641575.1:c.2551_2552insAA	ENSP00000492917.1:p.Leu851Ter
ENST00000641603.1:c.2587_2588insAA	ENSP00000492945.1:p.Leu863Ter
ENST00000641996.1:c.*2141_*2142insAA	ENSP00000493054.1:n.*2141_*2142insAA
ENST00000671940.1:c.*530_*531insAA	ENSP00000500336.1:n.*530_*531insAA
ENST00000673490.1:n.5060_5061insAA
ENST00000674923.1:c.2587_2588insAA MANE Select	ENSP00000501589.1:p.Leu863Ter
ENST00000303395.8:c.2587_2588insAA	ENSP00000303540.4:p.Leu863Ter
ENST00000375405.7:c.2554_2555insAA	ENSP00000364554.3:p.Leu852Ter
ENST00000409050.1:c.2503_2504insAA	ENSP00000386312.1:p.Leu835Ter
ENST00000423058.6:c.2587_2588insAA	ENSP00000407030.2:p.Leu863Ter
NM_001165963.1:c.2587_2588insAA	NP_001159435.1:p.Leu863Ter
NM_001165964.1:c.2503_2504insAA	NP_001159436.1:p.Leu835Ter
NM_001202435.1:c.2587_2588insAA	NP_001189364.1:p.Leu863Ter
NM_006920.4:c.2554_2555insAA , LRG_8t1:c.2554_2555insAA	NP_008851.3:p.Leu852Ter
XM_011511598.1:c.2587_2588insAA	XP_011509900.1:p.Leu863Ter
XM_011511599.1:c.2587_2588insAA	XP_011509901.1:p.Leu863Ter
XM_011511600.1:c.2587_2588insAA	XP_011509902.1:p.Leu863Ter
XM_011511601.1:c.2587_2588insAA	XP_011509903.1:p.Leu863Ter
XM_011511602.1:c.2587_2588insAA	XP_011509904.1:p.Leu863Ter
XM_011511603.1:c.2584_2585insAA	XP_011509905.1:p.Leu862Ter
XM_011511604.1:c.2554_2555insAA	XP_011509906.1:p.Leu852Ter
XM_011511605.1:c.2551_2552insAA	XP_011509907.1:p.Leu851Ter
XM_011511606.1:c.2503_2504insAA	XP_011509908.1:p.Leu835Ter
XM_011511607.1:c.2587_2588insAA	XP_011509909.1:p.Leu863Ter
XR_922981.1:n.2771_2772insAA
NM_001165963.2:c.2587_2588insAA	NP_001159435.1:p.Leu863Ter
NM_001165964.2:c.2503_2504insAA	NP_001159436.1:p.Leu835Ter
NM_001202435.2:c.2587_2588insAA	NP_001189364.1:p.Leu863Ter
NM_001353948.1:c.2587_2588insAA	NP_001340877.1:p.Leu863Ter
NM_001353949.1:c.2554_2555insAA	NP_001340878.1:p.Leu852Ter
NM_001353950.1:c.2554_2555insAA	NP_001340879.1:p.Leu852Ter
NM_001353951.1:c.2554_2555insAA	NP_001340880.1:p.Leu852Ter
NM_001353952.1:c.2554_2555insAA	NP_001340881.1:p.Leu852Ter
NM_001353954.1:c.2551_2552insAA	NP_001340883.1:p.Leu851Ter
NM_001353955.1:c.2551_2552insAA	NP_001340884.1:p.Leu851Ter
NM_001353957.1:c.2503_2504insAA	NP_001340886.1:p.Leu835Ter
NM_001353958.1:c.2503_2504insAA	NP_001340887.1:p.Leu835Ter
NM_001353960.1:c.2500_2501insAA	NP_001340889.1:p.Leu834Ter
NM_001353961.1:c.145_146insAA	NP_001340890.1:p.Leu49Ter
NM_006920.5:c.2554_2555insAA	NP_008851.3:p.Leu852Ter
NR_148667.1:n.2959_2960insAA
XR_001738883.1:n.2973_2974insAA
XR_001738884.1:n.2945_2946insAA
NM_001165963.3:c.2587_2588insAA	NP_001159435.1:p.Leu863Ter
NM_001165964.3:c.2503_2504insAA	NP_001159436.1:p.Leu835Ter
NM_001202435.3:c.2587_2588insAA	NP_001189364.1:p.Leu863Ter
NM_001353948.2:c.2587_2588insAA	NP_001340877.1:p.Leu863Ter
NM_001353949.2:c.2554_2555insAA	NP_001340878.1:p.Leu852Ter
NM_001353950.2:c.2554_2555insAA	NP_001340879.1:p.Leu852Ter
NM_001353951.2:c.2554_2555insAA	NP_001340880.1:p.Leu852Ter
NM_001353952.2:c.2554_2555insAA	NP_001340881.1:p.Leu852Ter
NM_001353954.2:c.2551_2552insAA	NP_001340883.1:p.Leu851Ter
NM_001353955.2:c.2551_2552insAA	NP_001340884.1:p.Leu851Ter
NM_001353957.2:c.2503_2504insAA	NP_001340886.1:p.Leu835Ter
NM_001353958.2:c.2503_2504insAA	NP_001340887.1:p.Leu835Ter
NM_001353960.2:c.2500_2501insAA	NP_001340889.1:p.Leu834Ter
NM_001353961.2:c.145_146insAA	NP_001340890.1:p.Leu49Ter
NM_006920.6:c.2554_2555insAA	NP_008851.3:p.Leu852Ter
NR_148667.2:n.2940_2941insAA
NM_001165963.4:c.2587_2588insAA MANE Select	NP_001159435.1:p.Leu863Ter