Canonical Allele Identifier: CA2542928308

Gene: SCN10A

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.38725277del , CM000665.2:g.38725277del	GRCh38
NC_000003.11:g.38766768del , CM000665.1:g.38766768del	GRCh37
NC_000003.10:g.38741772del	NCBI36
NG_031891.2:g.73734del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000449082.3:c.3125del MANE Select	ENSP00000390600.2:p.His1042ProfsTer2
ENST00000643924.1:c.3122del	ENSP00000495595.1:p.His1041ProfsTer2
ENST00000655275.1:c.3149del	ENSP00000499510.1:p.His1050ProfsTer2
ENST00000449082.2:c.3125del	ENSP00000390600.2:p.His1042ProfsTer2
NM_001293306.2:c.3122del	NP_001280235.2:p.His1041ProfsTer2
NM_001293307.2:c.2831del	NP_001280236.2:p.His944ProfsTer2
NM_006514.3:c.3125del	NP_006505.3:p.His1042ProfsTer2
XM_005265371.2:c.3134del	XP_005265428.1:p.His1045ProfsTer2
XM_011533993.1:c.3131del	XP_011532295.1:p.His1044ProfsTer2
XM_011533994.1:c.2840del	XP_011532296.1:p.His947ProfsTer2
XM_005265371.3:c.3134del	XP_005265428.1:p.His1045ProfsTer2
XM_011533993.2:c.3131del	XP_011532295.1:p.His1044ProfsTer2
XM_011533994.2:c.2840del	XP_011532296.1:p.His947ProfsTer2
NM_006514.4:c.3125del MANE Select	NP_006505.4:p.His1042ProfsTer2