Canonical Allele Identifier: CA2513829629
Gene: SCN10A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.38752613_38752619del , CM000665.2:g.38752613_38752619del GRCh38
NC_000003.11:g.38794104_38794110del , CM000665.1:g.38794104_38794110del GRCh37
NC_000003.10:g.38769108_38769114del NCBI36
NG_031891.2:g.46392_46398del

Transcript Alleles

HGVS Amino-acid Change
ENST00000449082.3:c.1462-107_1462-101del MANE Select ENSP00000390600.2:n.1462-107_1462-101del
ENST00000643924.1:c.1462-107_1462-101del ENSP00000495595.1:n.1462-107_1462-101del
ENST00000655275.1:c.1489-107_1489-101del ENSP00000499510.1:n.1489-107_1489-101del
ENST00000449082.2:c.1462-107_1462-101del ENSP00000390600.2:n.1462-107_1462-101del
NM_001293306.2:c.1462-107_1462-101del NP_001280235.2:n.1462-107_1462-101del
NM_001293307.2:c.1462-2435_1462-2429del NP_001280236.2:n.1462-2435_1462-2429del
NM_006514.3:c.1462-107_1462-101del NP_006505.3:n.1462-107_1462-101del
XM_005265371.2:c.1471-107_1471-101del XP_005265428.1:n.1471-107_1471-101del
XM_011533993.1:c.1471-107_1471-101del XP_011532295.1:n.1471-107_1471-101del
XM_011533994.1:c.1471-2435_1471-2429del XP_011532296.1:n.1471-2435_1471-2429del
XM_005265371.3:c.1471-107_1471-101del XP_005265428.1:n.1471-107_1471-101del
XM_011533993.2:c.1471-107_1471-101del XP_011532295.1:n.1471-107_1471-101del
XM_011533994.2:c.1471-2435_1471-2429del XP_011532296.1:n.1471-2435_1471-2429del
NM_006514.4:c.1462-107_1462-101del MANE Select NP_006505.4:n.1462-107_1462-101del