Canonical Allele Identifier: CA2702487340

Gene: SCN10A

Linked Data

• dbSNP Id: rs2126023771

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.38752448del , CM000665.2:g.38752448del	GRCh38
NC_000003.11:g.38793939del , CM000665.1:g.38793939del	GRCh37
NC_000003.10:g.38768943del	NCBI36
NG_031891.2:g.46566del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000449082.3:c.1529del MANE Select	ENSP00000390600.2:p.Pro510LeufsTer?
ENST00000643924.1:c.1529del	ENSP00000495595.1:p.Pro510LeufsTer?
ENST00000655275.1:c.1556del	ENSP00000499510.1:p.Pro519LeufsTer?
ENST00000449082.2:c.1529del	ENSP00000390600.2:p.Pro510LeufsTer?
NM_001293306.2:c.1529del	NP_001280235.2:p.Pro510LeufsTer?
NM_001293307.2:c.1462-2261del	NP_001280236.2:n.1462-2261del
NM_006514.3:c.1529del	NP_006505.3:p.Pro510LeufsTer?
XM_005265371.2:c.1538del	XP_005265428.1:p.Pro513LeufsTer?
XM_011533993.1:c.1538del	XP_011532295.1:p.Pro513LeufsTer?
XM_011533994.1:c.1471-2261del	XP_011532296.1:n.1471-2261del
XM_005265371.3:c.1538del	XP_005265428.1:p.Pro513LeufsTer?
XM_011533993.2:c.1538del	XP_011532295.1:p.Pro513LeufsTer?
XM_011533994.2:c.1471-2261del	XP_011532296.1:n.1471-2261del
NM_006514.4:c.1529del MANE Select	NP_006505.4:p.Pro510LeufsTer?