Canonical Allele Identifier: CA2586970539

Gene: SCN1A

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.166037894_166037897del , CM000664.2:g.166037894_166037897del	GRCh38
NC_000002.11:g.166894404_166894407del , CM000664.1:g.166894404_166894407del	GRCh37
NC_000002.10:g.166602650_166602653del	NCBI36
NG_011906.1:g.40745_40748del , LRG_8:g.40745_40748del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000689288.1:c.*863_*866del	ENSP00000509637.1:n.*863_*866del
ENST00000303395.9:c.2827_2830del	ENSP00000303540.4:p.Ile943CysfsTer10
ENST00000635750.1:c.2794_2797del	ENSP00000490799.1:p.Ile932CysfsTer10
ENST00000635776.1:c.2794_2797del	ENSP00000490692.1:p.Ile932CysfsTer10
ENST00000636194.1:c.*320_*323del	ENSP00000490288.1:n.*320_*323del
ENST00000636759.1:c.*2617_*2620del	ENSP00000490895.1:n.*2617_*2620del
ENST00000637968.1:n.3079_3082del
ENST00000637988.1:c.2794_2797del	ENSP00000490780.1:p.Ile932CysfsTer10
ENST00000640036.1:c.2794_2797del	ENSP00000491573.1:p.Ile932CysfsTer10
ENST00000641575.1:c.2791_2794del	ENSP00000492917.1:p.Ile931CysfsTer10
ENST00000641603.1:c.2827_2830del	ENSP00000492945.1:p.Ile943CysfsTer10
ENST00000641996.1:c.*2381_*2384del	ENSP00000493054.1:n.*2381_*2384del
ENST00000671940.1:c.*770_*773del	ENSP00000500336.1:n.*770_*773del
ENST00000673490.1:n.5300_5303del
ENST00000674923.1:c.2827_2830del MANE Select	ENSP00000501589.1:p.Ile943CysfsTer10
ENST00000303395.8:c.2827_2830del	ENSP00000303540.4:p.Ile943CysfsTer10
ENST00000375405.7:c.2794_2797del	ENSP00000364554.3:p.Ile932CysfsTer10
ENST00000409050.1:c.2743_2746del	ENSP00000386312.1:p.Ile915CysfsTer10
ENST00000423058.6:c.2827_2830del	ENSP00000407030.2:p.Ile943CysfsTer10
NM_001165963.1:c.2827_2830del	NP_001159435.1:p.Ile943CysfsTer10
NM_001165964.1:c.2743_2746del	NP_001159436.1:p.Ile915CysfsTer10
NM_001202435.1:c.2827_2830del	NP_001189364.1:p.Ile943CysfsTer10
NM_006920.4:c.2794_2797del , LRG_8t1:c.2794_2797del	NP_008851.3:p.Ile932CysfsTer10
XM_011511598.1:c.2827_2830del	XP_011509900.1:p.Ile943CysfsTer10
XM_011511599.1:c.2827_2830del	XP_011509901.1:p.Ile943CysfsTer10
XM_011511600.1:c.2827_2830del	XP_011509902.1:p.Ile943CysfsTer10
XM_011511601.1:c.2827_2830del	XP_011509903.1:p.Ile943CysfsTer10
XM_011511602.1:c.2827_2830del	XP_011509904.1:p.Ile943CysfsTer10
XM_011511603.1:c.2824_2827del	XP_011509905.1:p.Ile942CysfsTer10
XM_011511604.1:c.2794_2797del	XP_011509906.1:p.Ile932CysfsTer10
XM_011511605.1:c.2791_2794del	XP_011509907.1:p.Ile931CysfsTer10
XM_011511606.1:c.2743_2746del	XP_011509908.1:p.Ile915CysfsTer10
XM_011511607.1:c.2827_2830del	XP_011509909.1:p.Ile943CysfsTer10
XR_922981.1:n.3011_3014del
NM_001165963.2:c.2827_2830del	NP_001159435.1:p.Ile943CysfsTer10
NM_001165964.2:c.2743_2746del	NP_001159436.1:p.Ile915CysfsTer10
NM_001202435.2:c.2827_2830del	NP_001189364.1:p.Ile943CysfsTer10
NM_001353948.1:c.2827_2830del	NP_001340877.1:p.Ile943CysfsTer10
NM_001353949.1:c.2794_2797del	NP_001340878.1:p.Ile932CysfsTer10
NM_001353950.1:c.2794_2797del	NP_001340879.1:p.Ile932CysfsTer10
NM_001353951.1:c.2794_2797del	NP_001340880.1:p.Ile932CysfsTer10
NM_001353952.1:c.2794_2797del	NP_001340881.1:p.Ile932CysfsTer10
NM_001353954.1:c.2791_2794del	NP_001340883.1:p.Ile931CysfsTer10
NM_001353955.1:c.2791_2794del	NP_001340884.1:p.Ile931CysfsTer10
NM_001353957.1:c.2743_2746del	NP_001340886.1:p.Ile915CysfsTer10
NM_001353958.1:c.2743_2746del	NP_001340887.1:p.Ile915CysfsTer10
NM_001353960.1:c.2740_2743del	NP_001340889.1:p.Ile914CysfsTer10
NM_001353961.1:c.385_388del	NP_001340890.1:p.Ile129CysfsTer10
NM_006920.5:c.2794_2797del	NP_008851.3:p.Ile932CysfsTer10
NR_148667.1:n.3199_3202del
XR_001738883.1:n.3213_3216del
XR_001738884.1:n.3185_3188del
NM_001165963.3:c.2827_2830del	NP_001159435.1:p.Ile943CysfsTer10
NM_001165964.3:c.2743_2746del	NP_001159436.1:p.Ile915CysfsTer10
NM_001202435.3:c.2827_2830del	NP_001189364.1:p.Ile943CysfsTer10
NM_001353948.2:c.2827_2830del	NP_001340877.1:p.Ile943CysfsTer10
NM_001353949.2:c.2794_2797del	NP_001340878.1:p.Ile932CysfsTer10
NM_001353950.2:c.2794_2797del	NP_001340879.1:p.Ile932CysfsTer10
NM_001353951.2:c.2794_2797del	NP_001340880.1:p.Ile932CysfsTer10
NM_001353952.2:c.2794_2797del	NP_001340881.1:p.Ile932CysfsTer10
NM_001353954.2:c.2791_2794del	NP_001340883.1:p.Ile931CysfsTer10
NM_001353955.2:c.2791_2794del	NP_001340884.1:p.Ile931CysfsTer10
NM_001353957.2:c.2743_2746del	NP_001340886.1:p.Ile915CysfsTer10
NM_001353958.2:c.2743_2746del	NP_001340887.1:p.Ile915CysfsTer10
NM_001353960.2:c.2740_2743del	NP_001340889.1:p.Ile914CysfsTer10
NM_001353961.2:c.385_388del	NP_001340890.1:p.Ile129CysfsTer10
NM_006920.6:c.2794_2797del	NP_008851.3:p.Ile932CysfsTer10
NR_148667.2:n.3180_3183del
NM_001165963.4:c.2827_2830del MANE Select	NP_001159435.1:p.Ile943CysfsTer10