Canonical Allele Identifier: CA429978126

Gene: SCN9A SCN1A-AS1

Linked Data

• gnomAD v4: 2-166272804-GTCT-G
• MyVariant Identifiers: chr2:g.167129315_167129317del (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.166272810_166272812del , CM000664.2:g.166272810_166272812del	GRCh38
NC_000002.11:g.167129320_167129322del , CM000664.1:g.167129320_167129322del	GRCh37
NC_000002.10:g.166837566_166837568del	NCBI36
NG_012798.1:g.108181_108183del , LRG_369:g.108181_108183del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000303354.11:c.2943_2945del (SCN9A)	ENSP00000304748.7:p.Glu981del
ENST00000409435.6:c.2943_2945del (SCN9A)	ENSP00000386330.2:p.Glu981del
ENST00000642356.2:c.2943_2945del (SCN9A) MANE Select	ENSP00000495601.1:p.Glu981del
ENST00000644316.1:c.2910_2912del (SCN9A)	ENSP00000493939.1:p.Glu970del
ENST00000645907.1:c.2910_2912del (SCN9A)	ENSP00000495983.1:p.Glu970del
ENST00000667201.2:c.1877-309_1877-307del (SCN9A)
ENST00000303354.10:c.2943_2945del (SCN9A)	ENSP00000304748.7:p.Glu981del
ENST00000409435.5:c.2943_2945del (SCN9A)	ENSP00000386330.1:p.Glu981del
ENST00000409672.5:c.2910_2912del (SCN9A)	ENSP00000386306.1:p.Glu970del
NM_002977.3:c.2910_2912del , LRG_369t1:c.2910_2912del (SCN9A)	NP_002968.1:p.Glu970del
NR_110260.1:n.870-4278_870-4276del (SCN1A-AS1)
XM_005246757.1:c.2943_2945del (SCN9A)	XP_005246814.1:p.Glu981del
XM_011511616.1:c.2943_2945del (SCN9A)	XP_011509918.1:p.Glu981del
XM_011511617.1:c.2943_2945del (SCN9A)	XP_011509919.1:p.Glu981del
XM_011511618.1:c.2910_2912del (SCN9A)	XP_011509920.1:p.Glu970del
XM_011511619.1:c.2943_2945del (SCN9A)	XP_011509921.1:p.Glu981del
NM_001365536.1:c.2943_2945del (SCN9A) MANE Select	NP_001352465.1:p.Glu981del
XM_011511616.3:c.2943_2945del (SCN9A)	XP_011509918.1:p.Glu981del
XM_011511617.2:c.2943_2945del (SCN9A)	XP_011509919.1:p.Glu981del
XM_011511618.2:c.2910_2912del (SCN9A)	XP_011509920.1:p.Glu970del
XM_011511619.2:c.2943_2945del (SCN9A)	XP_011509921.1:p.Glu981del
XM_017004668.1:c.2556_2558del (SCN9A)	XP_016860157.1:p.Glu852del
XM_017004669.1:c.2199_2201del (SCN9A)	XP_016860158.1:p.Glu733del
XR_001738886.1:n.3411_3413del (SCN9A)