Canonical Allele Identifier: CA1942630

Gene: SCN1A

Linked Data

• dbSNP Id: rs776519927
• ExAC: 2:166847922 TAAG / T
• gnomAD v2: 2-166847922-TAAG-T
• gnomAD v4: 2-165991412-TAAG-T
• MyVariant Identifiers: chr2:g.166847923_166847925del (hg19) ; chr2:g.165991413_165991415del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.165991417_165991419del , CM000664.2:g.165991417_165991419del	GRCh38
NC_000002.11:g.166847927_166847929del , CM000664.1:g.166847927_166847929del	GRCh37
NC_000002.10:g.166556173_166556175del	NCBI36
NG_011906.1:g.87225_87227del , LRG_8:g.87225_87227del

Transcript Alleles

HGVS	Amino-acid change
ENST00000689288.1:c.*3896_*3898del	ENSP00000509637.1:n.*3896_*3898del
ENST00000303395.9:c.5860_5862del	ENSP00000303540.4:p.Leu1954del
ENST00000635750.1:c.5827_5829del	ENSP00000490799.1:p.Leu1943del
ENST00000635776.1:c.*2693_*2695del	ENSP00000490692.1:n.*2693_*2695del
ENST00000636194.1:c.*3353_*3355del	ENSP00000490288.1:n.*3353_*3355del
ENST00000637038.1:c.2722_2724del
ENST00000637988.1:c.5827_5829del	ENSP00000490780.1:p.Leu1943del
ENST00000640036.1:c.5827_5829del	ENSP00000491573.1:p.Leu1943del
ENST00000641575.1:c.5824_5826del	ENSP00000492917.1:p.Leu1942del
ENST00000641603.1:c.5578_5580del	ENSP00000492945.1:p.Leu1860del
ENST00000641996.1:c.*5414_*5416del	ENSP00000493054.1:n.*5414_*5416del
ENST00000671940.1:c.*3803_*3805del	ENSP00000500336.1:n.*3803_*3805del
ENST00000673490.1:n.8333_8335del
ENST00000674923.1:c.5860_5862del MANE Select	ENSP00000501589.1:p.Leu1954del
ENST00000303395.8:c.5860_5862del	ENSP00000303540.4:p.Leu1954del
ENST00000375405.7:c.5827_5829del	ENSP00000364554.3:p.Leu1943del
ENST00000409050.1:c.5776_5778del	ENSP00000386312.1:p.Leu1926del
ENST00000423058.6:c.5860_5862del	ENSP00000407030.2:p.Leu1954del
NM_001165963.1:c.5860_5862del	NP_001159435.1:p.Leu1954del
NM_001165964.1:c.5776_5778del	NP_001159436.1:p.Leu1926del
NM_001202435.1:c.5860_5862del	NP_001189364.1:p.Leu1954del
NM_006920.4:c.5827_5829del , LRG_8t1:c.5827_5829del	NP_008851.3:p.Leu1943del
NR_110598.1:n.176-24196_176-24194del
XM_011511598.1:c.5860_5862del	XP_011509900.1:p.Leu1954del
XM_011511599.1:c.5860_5862del	XP_011509901.1:p.Leu1954del
XM_011511600.1:c.5860_5862del	XP_011509902.1:p.Leu1954del
XM_011511601.1:c.5860_5862del	XP_011509903.1:p.Leu1954del
XM_011511602.1:c.5860_5862del	XP_011509904.1:p.Leu1954del
XM_011511603.1:c.5857_5859del	XP_011509905.1:p.Leu1953del
XM_011511604.1:c.5827_5829del	XP_011509906.1:p.Leu1943del
XM_011511605.1:c.5824_5826del	XP_011509907.1:p.Leu1942del
XM_011511606.1:c.5776_5778del	XP_011509908.1:p.Leu1926del
XM_011511607.1:c.5578_5580del	XP_011509909.1:p.Leu1860del
NM_001165963.2:c.5860_5862del	NP_001159435.1:p.Leu1954del
NM_001165964.2:c.5776_5778del	NP_001159436.1:p.Leu1926del
NM_001202435.2:c.5860_5862del	NP_001189364.1:p.Leu1954del
NM_001353948.1:c.5860_5862del	NP_001340877.1:p.Leu1954del
NM_001353949.1:c.5827_5829del	NP_001340878.1:p.Leu1943del
NM_001353950.1:c.5827_5829del	NP_001340879.1:p.Leu1943del
NM_001353951.1:c.5827_5829del	NP_001340880.1:p.Leu1943del
NM_001353952.1:c.5827_5829del	NP_001340881.1:p.Leu1943del
NM_001353954.1:c.5824_5826del	NP_001340883.1:p.Leu1942del
NM_001353955.1:c.5824_5826del	NP_001340884.1:p.Leu1942del
NM_001353957.1:c.5776_5778del	NP_001340886.1:p.Leu1926del
NM_001353958.1:c.5776_5778del	NP_001340887.1:p.Leu1926del
NM_001353960.1:c.5773_5775del	NP_001340889.1:p.Leu1925del
NM_001353961.1:c.3418_3420del	NP_001340890.1:p.Leu1140del
NM_006920.5:c.5827_5829del	NP_008851.3:p.Leu1943del
NR_148667.1:n.6296_6298del
XR_001738883.1:n.6310_6312del
XR_001738884.1:n.6282_6284del
NM_001165963.3:c.5860_5862del	NP_001159435.1:p.Leu1954del
NM_001165964.3:c.5776_5778del	NP_001159436.1:p.Leu1926del
NM_001202435.3:c.5860_5862del	NP_001189364.1:p.Leu1954del
NM_001353948.2:c.5860_5862del	NP_001340877.1:p.Leu1954del
NM_001353949.2:c.5827_5829del	NP_001340878.1:p.Leu1943del
NM_001353950.2:c.5827_5829del	NP_001340879.1:p.Leu1943del
NM_001353951.2:c.5827_5829del	NP_001340880.1:p.Leu1943del
NM_001353952.2:c.5827_5829del	NP_001340881.1:p.Leu1943del
NM_001353954.2:c.5824_5826del	NP_001340883.1:p.Leu1942del
NM_001353955.2:c.5824_5826del	NP_001340884.1:p.Leu1942del
NM_001353957.2:c.5776_5778del	NP_001340886.1:p.Leu1926del
NM_001353958.2:c.5776_5778del	NP_001340887.1:p.Leu1926del
NM_001353960.2:c.5773_5775del	NP_001340889.1:p.Leu1925del
NM_001353961.2:c.3418_3420del	NP_001340890.1:p.Leu1140del
NM_006920.6:c.5827_5829del	NP_008851.3:p.Leu1943del
NR_148667.2:n.6277_6279del
NM_001165963.4:c.5860_5862del MANE Select	NP_001159435.1:p.Leu1954del