Canonical Allele Identifier: CA2661769452

Gene: SCN9A

Linked Data

• gnomAD v4: 2-166303222-TCAGA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.166303227_166303230del , CM000664.2:g.166303227_166303230del	GRCh38
NC_000002.11:g.167159737_167159740del , CM000664.1:g.167159737_167159740del	GRCh37
NC_000002.10:g.166867983_166867986del	NCBI36
NG_012798.1:g.77762_77765del , LRG_369:g.77762_77765del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000303354.11:c.765_768del	ENSP00000304748.7:p.Cys255Ter
ENST00000409435.6:c.765_768del	ENSP00000386330.2:p.Cys255Ter
ENST00000452182.2:c.765_768del	ENSP00000393141.2:p.Cys255Ter
ENST00000454569.6:c.765_768del	ENSP00000413212.2:p.Cys255Ter
ENST00000472119.2:n.1120_1123del
ENST00000642356.2:c.765_768del MANE Select	ENSP00000495601.1:p.Cys255Ter
ENST00000644316.1:c.765_768del	ENSP00000493939.1:p.Cys255Ter
ENST00000645815.1:n.136_139del
ENST00000645907.1:c.765_768del	ENSP00000495983.1:p.Cys255Ter
ENST00000303354.10:c.765_768del	ENSP00000304748.7:p.Cys255Ter
ENST00000409435.5:c.765_768del	ENSP00000386330.1:p.Cys255Ter
ENST00000409672.5:c.765_768del	ENSP00000386306.1:p.Cys255Ter
ENST00000452182.1:c.360_363del	ENSP00000393141.1:p.Cys120Ter
ENST00000454569.5:c.360_363del	ENSP00000413212.1:p.Cys120Ter
ENST00000472119.1:n.298_301del
NM_002977.3:c.765_768del , LRG_369t1:c.765_768del	NP_002968.1:p.Cys255Ter
XM_005246757.1:c.765_768del	XP_005246814.1:p.Cys255Ter
XM_011511616.1:c.765_768del	XP_011509918.1:p.Cys255Ter
XM_011511617.1:c.765_768del	XP_011509919.1:p.Cys255Ter
XM_011511618.1:c.765_768del	XP_011509920.1:p.Cys255Ter
XM_011511619.1:c.765_768del	XP_011509921.1:p.Cys255Ter
NM_001365536.1:c.765_768del MANE Select	NP_001352465.1:p.Cys255Ter
XM_011511616.3:c.765_768del	XP_011509918.1:p.Cys255Ter
XM_011511617.2:c.765_768del	XP_011509919.1:p.Cys255Ter
XM_011511618.2:c.765_768del	XP_011509920.1:p.Cys255Ter
XM_011511619.2:c.765_768del	XP_011509921.1:p.Cys255Ter
XM_017004668.1:c.378_381del	XP_016860157.1:p.Cys126Ter
XM_017004669.1:c.21_24del	XP_016860158.1:p.Cys7Ter
XR_001738886.1:n.1079_1082del