Canonical Allele Identifier: CA2661768538

Gene: SCN9A SCN1A-AS1

Linked Data

• gnomAD v4: 2-166288463-G-GTCGGTCTTTTT

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.166288463_166288464insTCGGTCTTTTT , CM000664.2:g.166288463_166288464insTCGGTCTTTTT	GRCh38
NC_000002.11:g.167144973_167144974insTCGGTCTTTTT , CM000664.1:g.167144973_167144974insTCGGTCTTTTT	GRCh37
NC_000002.10:g.166853219_166853220insTCGGTCTTTTT	NCBI36
NG_012798.1:g.92524_92525insAAAAAGACCGA , LRG_369:g.92524_92525insAAAAAGACCGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000303354.11:c.1287_1288insAAAAAGACCGA (SCN9A)	ENSP00000304748.7:p.Leu430LysfsTer?
ENST00000409435.6:c.1287_1288insAAAAAGACCGA (SCN9A)	ENSP00000386330.2:p.Leu430LysfsTer?
ENST00000454569.6:c.1287_1288insAAAAAGACCGA (SCN9A)	ENSP00000413212.2:p.Leu430LysfsTer?
ENST00000642356.2:c.1287_1288insAAAAAGACCGA (SCN9A) MANE Select	ENSP00000495601.1:p.Leu430LysfsTer?
ENST00000644316.1:c.1287_1288insAAAAAGACCGA (SCN9A)	ENSP00000493939.1:p.Leu430LysfsTer?
ENST00000645907.1:c.1287_1288insAAAAAGACCGA (SCN9A)	ENSP00000495983.1:p.Leu430LysfsTer?
ENST00000667201.2:c.322_323insAAAAAGACCGA (SCN9A)
ENST00000303354.10:c.1287_1288insAAAAAGACCGA (SCN9A)	ENSP00000304748.7:p.Leu430LysfsTer?
ENST00000409435.5:c.1287_1288insAAAAAGACCGA (SCN9A)	ENSP00000386330.1:p.Leu430LysfsTer?
ENST00000409672.5:c.1287_1288insAAAAAGACCGA (SCN9A)	ENSP00000386306.1:p.Leu430LysfsTer?
ENST00000452182.1:c.882_883insAAAAAGACCGA (SCN9A)	ENSP00000393141.1:p.Leu295LysfsTer?
ENST00000454569.5:c.882_883insAAAAAGACCGA (SCN9A)	ENSP00000413212.1:p.Leu295LysfsTer?
NM_002977.3:c.1287_1288insAAAAAGACCGA , LRG_369t1:c.1287_1288insAAAAAGACCGA (SCN9A)	NP_002968.1:p.Leu430LysfsTer?
NR_110260.1:n.1030-6102_1030-6101insTCGGTCTTTTT (SCN1A-AS1)
XM_005246757.1:c.1287_1288insAAAAAGACCGA (SCN9A)	XP_005246814.1:p.Leu430LysfsTer?
XM_011511616.1:c.1287_1288insAAAAAGACCGA (SCN9A)	XP_011509918.1:p.Leu430LysfsTer?
XM_011511617.1:c.1287_1288insAAAAAGACCGA (SCN9A)	XP_011509919.1:p.Leu430LysfsTer?
XM_011511618.1:c.1287_1288insAAAAAGACCGA (SCN9A)	XP_011509920.1:p.Leu430LysfsTer?
XM_011511619.1:c.1287_1288insAAAAAGACCGA (SCN9A)	XP_011509921.1:p.Leu430LysfsTer?
NM_001365536.1:c.1287_1288insAAAAAGACCGA (SCN9A) MANE Select	NP_001352465.1:p.Leu430LysfsTer?
XM_011511616.3:c.1287_1288insAAAAAGACCGA (SCN9A)	XP_011509918.1:p.Leu430LysfsTer?
XM_011511617.2:c.1287_1288insAAAAAGACCGA (SCN9A)	XP_011509919.1:p.Leu430LysfsTer?
XM_011511618.2:c.1287_1288insAAAAAGACCGA (SCN9A)	XP_011509920.1:p.Leu430LysfsTer?
XM_011511619.2:c.1287_1288insAAAAAGACCGA (SCN9A)	XP_011509921.1:p.Leu430LysfsTer?
XM_017004668.1:c.900_901insAAAAAGACCGA (SCN9A)	XP_016860157.1:p.Leu301LysfsTer?
XM_017004669.1:c.543_544insAAAAAGACCGA (SCN9A)	XP_016860158.1:p.Leu182LysfsTer?
XR_001738886.1:n.1601_1602insAAAAAGACCGA (SCN9A)