Canonical Allele Identifier: CA2838032650
Gene: SCN1A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.165994134_165994148del , CM000664.2:g.165994134_165994148del GRCh38
NC_000002.11:g.166850644_166850658del , CM000664.1:g.166850644_166850658del GRCh37
NC_000002.10:g.166558890_166558904del NCBI36
NG_011906.1:g.84494_84508del , LRG_8:g.84494_84508del

Transcript Alleles

HGVS Amino-acid Change
ENST00000689288.1:c.*2888_*2888+14del
ENST00000303395.9:c.4852_4852+14del
ENST00000635750.1:c.4819_4819+14del
ENST00000635776.1:c.4819_4833del ENSP00000490692.1:p.Gly1607_Leu1611del
ENST00000636194.1:c.*2345_*2345+14del
ENST00000637038.1:c.1714_1714+14del
ENST00000637988.1:c.4819_4819+14del
ENST00000640036.1:c.4819_4819+14del
ENST00000641575.1:c.4816_4816+14del
ENST00000641603.1:c.4570_4570+14del
ENST00000641996.1:c.*4406_*4406+14del
ENST00000671940.1:c.*2795_*2795+14del
ENST00000673490.1:n.7325_7325+14del
ENST00000674923.1:c.4852_4852+14del
ENST00000303395.8:c.4852_4852+14del
ENST00000375405.7:c.4819_4819+14del
ENST00000409050.1:c.4768_4768+14del
ENST00000423058.6:c.4852_4852+14del
NM_001165963.1:c.4852_4852+14del
NM_001165964.1:c.4768_4768+14del
NM_001202435.1:c.4852_4852+14del
NM_006920.4:c.4819_4819+14del , LRG_8t1:c.4819_4819+14del
NR_110598.1:n.176-21479_176-21465del
XM_011511598.1:c.4852_4852+14del
XM_011511599.1:c.4852_4852+14del
XM_011511600.1:c.4852_4852+14del
XM_011511601.1:c.4852_4852+14del
XM_011511602.1:c.4852_4852+14del
XM_011511603.1:c.4849_4849+14del
XM_011511604.1:c.4819_4819+14del
XM_011511605.1:c.4816_4816+14del
XM_011511606.1:c.4768_4768+14del
XM_011511607.1:c.4570_4570+14del
NM_001165963.2:c.4852_4852+14del
NM_001165964.2:c.4768_4768+14del
NM_001202435.2:c.4852_4852+14del
NM_001353948.1:c.4852_4852+14del
NM_001353949.1:c.4819_4819+14del
NM_001353950.1:c.4819_4819+14del
NM_001353951.1:c.4819_4819+14del
NM_001353952.1:c.4819_4819+14del
NM_001353954.1:c.4816_4816+14del
NM_001353955.1:c.4816_4816+14del
NM_001353957.1:c.4768_4768+14del
NM_001353958.1:c.4768_4768+14del
NM_001353960.1:c.4765_4765+14del
NM_001353961.1:c.2410_2410+14del
NM_006920.5:c.4819_4819+14del
NR_148667.1:n.5288_5288+14del
XR_001738883.1:n.5302_5302+14del
XR_001738884.1:n.5274_5274+14del
NM_001165963.3:c.4852_4852+14del
NM_001165964.3:c.4768_4768+14del
NM_001202435.3:c.4852_4852+14del
NM_001353948.2:c.4852_4852+14del
NM_001353949.2:c.4819_4819+14del
NM_001353950.2:c.4819_4819+14del
NM_001353951.2:c.4819_4819+14del
NM_001353952.2:c.4819_4819+14del
NM_001353954.2:c.4816_4816+14del
NM_001353955.2:c.4816_4816+14del
NM_001353957.2:c.4768_4768+14del
NM_001353958.2:c.4768_4768+14del
NM_001353960.2:c.4765_4765+14del
NM_001353961.2:c.2410_2410+14del
NM_006920.6:c.4819_4819+14del
NR_148667.2:n.5269_5269+14del
NM_001165963.4:c.4852_4852+14del