Canonical Allele Identifier: CA2665121308

Gene: SCN10A

Linked Data

• gnomAD v4: 3-38752385-TG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.38752387del , CM000665.2:g.38752387del	GRCh38
NC_000003.11:g.38793878del , CM000665.1:g.38793878del	GRCh37
NC_000003.10:g.38768882del	NCBI36
NG_031891.2:g.46625del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000449082.3:c.1588del MANE Select	ENSP00000390600.2:p.His530ThrfsTer?
ENST00000643924.1:c.1588del	ENSP00000495595.1:p.His530ThrfsTer?
ENST00000655275.1:c.1615del	ENSP00000499510.1:p.His539ThrfsTer?
ENST00000449082.2:c.1588del	ENSP00000390600.2:p.His530ThrfsTer?
NM_001293306.2:c.1588del	NP_001280235.2:p.His530ThrfsTer?
NM_001293307.2:c.1462-2202del	NP_001280236.2:n.1462-2202del
NM_006514.3:c.1588del	NP_006505.3:p.His530ThrfsTer?
XM_005265371.2:c.1597del	XP_005265428.1:p.His533ThrfsTer?
XM_011533993.1:c.1597del	XP_011532295.1:p.His533ThrfsTer?
XM_011533994.1:c.1471-2202del	XP_011532296.1:n.1471-2202del
XM_005265371.3:c.1597del	XP_005265428.1:p.His533ThrfsTer?
XM_011533993.2:c.1597del	XP_011532295.1:p.His533ThrfsTer?
XM_011533994.2:c.1471-2202del	XP_011532296.1:n.1471-2202del
NM_006514.4:c.1588del MANE Select	NP_006505.4:p.His530ThrfsTer?