Canonical Allele Identifier: CA59801993

Gene: SCN9A SCN1A-AS1

Linked Data

• dbSNP Id: rs10584581
• gnomAD v2: 2-167144672-T-TACAC
• gnomAD v3: 2-166288162-T-TACAC
• gnomAD v4: 2-166288162-T-TACAC
• MyVariant Identifiers: chr2:g.167144674_167144675insACAC (hg19) ; chr2:g.167144672_167144673insACAC (hg19) ; chr2:g.166288164_166288165insACAC (hg38) ; chr2:g.166288162_166288163insACAC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.166288173_166288176dup , CM000664.2:g.166288173_166288176dup	GRCh38
NC_000002.11:g.167144683_167144686dup , CM000664.1:g.167144683_167144686dup	GRCh37
NC_000002.10:g.166852929_166852932dup	NCBI36
NG_012798.1:g.92822_92825dup , LRG_369:g.92822_92825dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000303354.11:c.1314+271_1314+274dup (SCN9A)	ENSP00000304748.7:n.1314+271_1314+274dup
ENST00000409435.6:c.1314+271_1314+274dup (SCN9A)	ENSP00000386330.2:n.1314+271_1314+274dup
ENST00000454569.6:c.1314+271_1314+274dup (SCN9A)	ENSP00000413212.2:n.1314+271_1314+274dup
ENST00000642356.2:c.1314+271_1314+274dup (SCN9A) MANE Select	ENSP00000495601.1:n.1314+271_1314+274dup
ENST00000644316.1:c.1314+271_1314+274dup (SCN9A)	ENSP00000493939.1:n.1314+271_1314+274dup
ENST00000645907.1:c.1314+271_1314+274dup (SCN9A)	ENSP00000495983.1:n.1314+271_1314+274dup
ENST00000667201.2:c.349+271_349+274dup (SCN9A)
ENST00000303354.10:c.1314+271_1314+274dup (SCN9A)	ENSP00000304748.7:n.1314+271_1314+274dup
ENST00000409435.5:c.1314+271_1314+274dup (SCN9A)	ENSP00000386330.1:n.1314+271_1314+274dup
ENST00000409672.5:c.1314+271_1314+274dup (SCN9A)	ENSP00000386306.1:n.1314+271_1314+274dup
ENST00000452182.1:c.909+271_909+274dup (SCN9A)	ENSP00000393141.1:n.909+271_909+274dup
ENST00000454569.5:c.909+271_909+274dup (SCN9A)	ENSP00000413212.1:n.909+271_909+274dup
NM_002977.3:c.1314+271_1314+274dup , LRG_369t1:c.1314+271_1314+274dup (SCN9A)	NP_002968.1:n.1314+271_1314+274dup
NR_110260.1:n.1030-6392_1030-6389dup (SCN1A-AS1)
XM_005246757.1:c.1314+271_1314+274dup (SCN9A)	XP_005246814.1:n.1314+271_1314+274dup
XM_011511616.1:c.1314+271_1314+274dup (SCN9A)	XP_011509918.1:n.1314+271_1314+274dup
XM_011511617.1:c.1314+271_1314+274dup (SCN9A)	XP_011509919.1:n.1314+271_1314+274dup
XM_011511618.1:c.1314+271_1314+274dup (SCN9A)	XP_011509920.1:n.1314+271_1314+274dup
XM_011511619.1:c.1314+271_1314+274dup (SCN9A)	XP_011509921.1:n.1314+271_1314+274dup
NM_001365536.1:c.1314+271_1314+274dup (SCN9A) MANE Select	NP_001352465.1:n.1314+271_1314+274dup
XM_011511616.3:c.1314+271_1314+274dup (SCN9A)	XP_011509918.1:n.1314+271_1314+274dup
XM_011511617.2:c.1314+271_1314+274dup (SCN9A)	XP_011509919.1:n.1314+271_1314+274dup
XM_011511618.2:c.1314+271_1314+274dup (SCN9A)	XP_011509920.1:n.1314+271_1314+274dup
XM_011511619.2:c.1314+271_1314+274dup (SCN9A)	XP_011509921.1:n.1314+271_1314+274dup
XM_017004668.1:c.927+271_927+274dup (SCN9A)	XP_016860157.1:n.927+271_927+274dup
XM_017004669.1:c.570+271_570+274dup (SCN9A)	XP_016860158.1:n.570+271_570+274dup
XR_001738886.1:n.1628+271_1628+274dup (SCN9A)