Canonical Allele Identifier: CA906865428

Gene: SCN10A

Linked Data

• dbSNP Id: rs1268094482
• MyVariant Identifiers: chr3:g.38766764_38766765insAGA (hg19) ; chr3:g.38725273_38725274insAGA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.38725275_38725276insAAG , CM000665.2:g.38725275_38725276insAAG	GRCh38
NC_000003.11:g.38766766_38766767insAAG , CM000665.1:g.38766766_38766767insAAG	GRCh37
NC_000003.10:g.38741770_38741771insAAG	NCBI36
NG_031891.2:g.73737_73738insTCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000449082.3:c.3128_3129insTCT MANE Select	ENSP00000390600.2:p.Leu1043_Thr1044insLeu
ENST00000643924.1:c.3125_3126insTCT	ENSP00000495595.1:p.Leu1042_Thr1043insLeu
ENST00000655275.1:c.3152_3153insTCT	ENSP00000499510.1:p.Leu1051_Thr1052insLeu
ENST00000449082.2:c.3128_3129insTCT	ENSP00000390600.2:p.Leu1043_Thr1044insLeu
NM_001293306.2:c.3125_3126insTCT	NP_001280235.2:p.Leu1042_Thr1043insLeu
NM_001293307.2:c.2834_2835insTCT	NP_001280236.2:p.Leu945_Thr946insLeu
NM_006514.3:c.3128_3129insTCT	NP_006505.3:p.Leu1043_Thr1044insLeu
XM_005265371.2:c.3137_3138insTCT	XP_005265428.1:p.Leu1046_Thr1047insLeu
XM_011533993.1:c.3134_3135insTCT	XP_011532295.1:p.Leu1045_Thr1046insLeu
XM_011533994.1:c.2843_2844insTCT	XP_011532296.1:p.Leu948_Thr949insLeu
XM_005265371.3:c.3137_3138insTCT	XP_005265428.1:p.Leu1046_Thr1047insLeu
XM_011533993.2:c.3134_3135insTCT	XP_011532295.1:p.Leu1045_Thr1046insLeu
XM_011533994.2:c.2843_2844insTCT	XP_011532296.1:p.Leu948_Thr949insLeu
NM_006514.4:c.3128_3129insTCT MANE Select	NP_006505.4:p.Leu1043_Thr1044insLeu