Canonical Allele Identifier: CA2512368211
Gene: SCN10A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.38725396_38725397del , CM000665.2:g.38725396_38725397del GRCh38
NC_000003.11:g.38766887_38766888del , CM000665.1:g.38766887_38766888del GRCh37
NC_000003.10:g.38741891_38741892del NCBI36
NG_031891.2:g.73616_73617del

Transcript Alleles

HGVS Amino-acid Change
ENST00000449082.3:c.3088-81_3088-80del MANE Select ENSP00000390600.2:n.3088-81_3088-80del
ENST00000643924.1:c.3088-84_3088-83del ENSP00000495595.1:n.3088-84_3088-83del
ENST00000655275.1:c.3115-84_3115-83del ENSP00000499510.1:n.3115-84_3115-83del
ENST00000449082.2:c.3088-81_3088-80del ENSP00000390600.2:n.3088-81_3088-80del
NM_001293306.2:c.3088-84_3088-83del NP_001280235.2:n.3088-84_3088-83del
NM_001293307.2:c.2794-81_2794-80del NP_001280236.2:n.2794-81_2794-80del
NM_006514.3:c.3088-81_3088-80del NP_006505.3:n.3088-81_3088-80del
XM_005265371.2:c.3097-81_3097-80del XP_005265428.1:n.3097-81_3097-80del
XM_011533993.1:c.3097-84_3097-83del XP_011532295.1:n.3097-84_3097-83del
XM_011533994.1:c.2803-81_2803-80del XP_011532296.1:n.2803-81_2803-80del
XM_005265371.3:c.3097-81_3097-80del XP_005265428.1:n.3097-81_3097-80del
XM_011533993.2:c.3097-84_3097-83del XP_011532295.1:n.3097-84_3097-83del
XM_011533994.2:c.2803-81_2803-80del XP_011532296.1:n.2803-81_2803-80del
NM_006514.4:c.3088-81_3088-80del MANE Select NP_006505.4:n.3088-81_3088-80del