Canonical Allele Identifier: CA2531982850

Gene: SCN10A

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.38725200_38725201del , CM000665.2:g.38725200_38725201del	GRCh38
NC_000003.11:g.38766691_38766692del , CM000665.1:g.38766691_38766692del	GRCh37
NC_000003.10:g.38741695_38741696del	NCBI36
NG_031891.2:g.73810_73811del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000449082.3:c.3201_3202del MANE Select	ENSP00000390600.2:p.Asp1067GlufsTer9
ENST00000643924.1:c.3198_3199del	ENSP00000495595.1:p.Asp1066GlufsTer9
ENST00000655275.1:c.3225_3226del	ENSP00000499510.1:p.Asp1075GlufsTer9
ENST00000449082.2:c.3201_3202del	ENSP00000390600.2:p.Asp1067GlufsTer9
NM_001293306.2:c.3198_3199del	NP_001280235.2:p.Asp1066GlufsTer9
NM_001293307.2:c.2907_2908del	NP_001280236.2:p.Asp969GlufsTer9
NM_006514.3:c.3201_3202del	NP_006505.3:p.Asp1067GlufsTer9
XM_005265371.2:c.3210_3211del	XP_005265428.1:p.Asp1070GlufsTer9
XM_011533993.1:c.3207_3208del	XP_011532295.1:p.Asp1069GlufsTer9
XM_011533994.1:c.2916_2917del	XP_011532296.1:p.Asp972GlufsTer9
XM_005265371.3:c.3210_3211del	XP_005265428.1:p.Asp1070GlufsTer9
XM_011533993.2:c.3207_3208del	XP_011532295.1:p.Asp1069GlufsTer9
XM_011533994.2:c.2916_2917del	XP_011532296.1:p.Asp972GlufsTer9
NM_006514.4:c.3201_3202del MANE Select	NP_006505.4:p.Asp1067GlufsTer9