Canonical Allele Identifier: CA1038850725

Gene: SCN9A

Linked Data

• gnomAD v3: 2-166303420-ATTC-A
• gnomAD v4: 2-166303420-ATTC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.166303421_166303423del , CM000664.2:g.166303421_166303423del	GRCh38
NC_000002.11:g.167159931_167159933del , CM000664.1:g.167159931_167159933del	GRCh37
NC_000002.10:g.166868177_166868179del	NCBI36
NG_012798.1:g.77565_77567del , LRG_369:g.77565_77567del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000303354.11:c.689-121_689-119del	ENSP00000304748.7:n.689-121_689-119del
ENST00000409435.6:c.689-121_689-119del	ENSP00000386330.2:n.689-121_689-119del
ENST00000452182.2:c.689-121_689-119del	ENSP00000393141.2:n.689-121_689-119del
ENST00000454569.6:c.689-121_689-119del	ENSP00000413212.2:n.689-121_689-119del
ENST00000472119.2:n.1044-121_1044-119del
ENST00000642356.2:c.689-121_689-119del MANE Select	ENSP00000495601.1:n.689-121_689-119del
ENST00000644316.1:c.689-121_689-119del	ENSP00000493939.1:n.689-121_689-119del
ENST00000645815.1:n.60-121_60-119del
ENST00000645907.1:c.689-121_689-119del	ENSP00000495983.1:n.689-121_689-119del
ENST00000303354.10:c.689-121_689-119del	ENSP00000304748.7:n.689-121_689-119del
ENST00000409435.5:c.689-121_689-119del	ENSP00000386330.1:n.689-121_689-119del
ENST00000409672.5:c.689-121_689-119del	ENSP00000386306.1:n.689-121_689-119del
ENST00000452182.1:c.284-121_284-119del	ENSP00000393141.1:n.284-121_284-119del
ENST00000454569.5:c.284-121_284-119del	ENSP00000413212.1:n.284-121_284-119del
ENST00000472119.1:n.222-121_222-119del
NM_002977.3:c.689-121_689-119del , LRG_369t1:c.689-121_689-119del	NP_002968.1:n.689-121_689-119del
XM_005246757.1:c.689-121_689-119del	XP_005246814.1:n.689-121_689-119del
XM_011511616.1:c.689-121_689-119del	XP_011509918.1:n.689-121_689-119del
XM_011511617.1:c.689-121_689-119del	XP_011509919.1:n.689-121_689-119del
XM_011511618.1:c.689-121_689-119del	XP_011509920.1:n.689-121_689-119del
XM_011511619.1:c.689-121_689-119del	XP_011509921.1:n.689-121_689-119del
NM_001365536.1:c.689-121_689-119del MANE Select	NP_001352465.1:n.689-121_689-119del
XM_011511616.3:c.689-121_689-119del	XP_011509918.1:n.689-121_689-119del
XM_011511617.2:c.689-121_689-119del	XP_011509919.1:n.689-121_689-119del
XM_011511618.2:c.689-121_689-119del	XP_011509920.1:n.689-121_689-119del
XM_011511619.2:c.689-121_689-119del	XP_011509921.1:n.689-121_689-119del
XM_017004668.1:c.302-121_302-119del	XP_016860157.1:n.302-121_302-119del
XM_017004669.1:c.-56-121_-56-119del	XP_016860158.1:n.-56-121_-56-119del
XR_001738886.1:n.1003-121_1003-119del