Canonical Allele Identifier: CA2665121307

Gene: SCN10A

Linked Data

• gnomAD v4: 3-38752333-GC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.38752335del , CM000665.2:g.38752335del	GRCh38
NC_000003.11:g.38793826del , CM000665.1:g.38793826del	GRCh37
NC_000003.10:g.38768830del	NCBI36
NG_031891.2:g.46677del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000449082.3:c.1640del MANE Select	ENSP00000390600.2:p.Gly547AlafsTer?
ENST00000643924.1:c.1640del	ENSP00000495595.1:p.Gly547AlafsTer?
ENST00000655275.1:c.1667del	ENSP00000499510.1:p.Gly556AlafsTer?
ENST00000449082.2:c.1640del	ENSP00000390600.2:p.Gly547AlafsTer?
NM_001293306.2:c.1640del	NP_001280235.2:p.Gly547AlafsTer?
NM_001293307.2:c.1462-2150del	NP_001280236.2:n.1462-2150del
NM_006514.3:c.1640del	NP_006505.3:p.Gly547AlafsTer?
XM_005265371.2:c.1649del	XP_005265428.1:p.Gly550AlafsTer?
XM_011533993.1:c.1649del	XP_011532295.1:p.Gly550AlafsTer?
XM_011533994.1:c.1471-2150del	XP_011532296.1:n.1471-2150del
XM_005265371.3:c.1649del	XP_005265428.1:p.Gly550AlafsTer?
XM_011533993.2:c.1649del	XP_011532295.1:p.Gly550AlafsTer?
XM_011533994.2:c.1471-2150del	XP_011532296.1:n.1471-2150del
NM_006514.4:c.1640del MANE Select	NP_006505.4:p.Gly547AlafsTer?