Canonical Allele Identifier: CA2661767710

Gene: SCN9A SCN1A-AS1

Linked Data

• gnomAD v4: 2-166280479-CAATAA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.166280484_166280488del , CM000664.2:g.166280484_166280488del	GRCh38
NC_000002.11:g.167136994_167136998del , CM000664.1:g.167136994_167136998del	GRCh37
NC_000002.10:g.166845240_166845244del	NCBI36
NG_012798.1:g.100504_100508del , LRG_369:g.100504_100508del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000303354.11:c.2216_2220del (SCN9A)	ENSP00000304748.7:p.Phe739CysfsTer30
ENST00000409435.6:c.2216_2220del (SCN9A)	ENSP00000386330.2:p.Phe739CysfsTer30
ENST00000454569.6:c.2183_2187del (SCN9A)	ENSP00000413212.2:p.Phe728CysfsTer30
ENST00000642356.2:c.2216_2220del (SCN9A) MANE Select	ENSP00000495601.1:p.Phe739CysfsTer30
ENST00000644316.1:c.2183_2187del (SCN9A)	ENSP00000493939.1:p.Phe728CysfsTer30
ENST00000645907.1:c.2183_2187del (SCN9A)	ENSP00000495983.1:p.Phe728CysfsTer30
ENST00000667201.2:c.1218_1222del (SCN9A)
ENST00000303354.10:c.2216_2220del (SCN9A)	ENSP00000304748.7:p.Phe739CysfsTer30
ENST00000409435.5:c.2216_2220del (SCN9A)	ENSP00000386330.1:p.Phe739CysfsTer30
ENST00000409672.5:c.2183_2187del (SCN9A)	ENSP00000386306.1:p.Phe728CysfsTer30
NM_002977.3:c.2183_2187del , LRG_369t1:c.2183_2187del (SCN9A)	NP_002968.1:p.Phe728CysfsTer30
NR_110260.1:n.1029+3237_1029+3241del (SCN1A-AS1)
XM_005246757.1:c.2216_2220del (SCN9A)	XP_005246814.1:p.Phe739CysfsTer30
XM_011511616.1:c.2216_2220del (SCN9A)	XP_011509918.1:p.Phe739CysfsTer30
XM_011511617.1:c.2216_2220del (SCN9A)	XP_011509919.1:p.Phe739CysfsTer30
XM_011511618.1:c.2183_2187del (SCN9A)	XP_011509920.1:p.Phe728CysfsTer30
XM_011511619.1:c.2216_2220del (SCN9A)	XP_011509921.1:p.Phe739CysfsTer30
NM_001365536.1:c.2216_2220del (SCN9A) MANE Select	NP_001352465.1:p.Phe739CysfsTer30
XM_011511616.3:c.2216_2220del (SCN9A)	XP_011509918.1:p.Phe739CysfsTer30
XM_011511617.2:c.2216_2220del (SCN9A)	XP_011509919.1:p.Phe739CysfsTer30
XM_011511618.2:c.2183_2187del (SCN9A)	XP_011509920.1:p.Phe728CysfsTer30
XM_011511619.2:c.2216_2220del (SCN9A)	XP_011509921.1:p.Phe739CysfsTer30
XM_017004668.1:c.1829_1833del (SCN9A)	XP_016860157.1:p.Phe610CysfsTer30
XM_017004669.1:c.1472_1476del (SCN9A)	XP_016860158.1:p.Phe491CysfsTer30
XR_001738886.1:n.2530_2534del (SCN9A)