Canonical Allele Identifier: CA1358653231
Gene: SCN10A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.38752296_38752299delinsGGTT , CM000665.2:g.38752296_38752299delinsGGTT GRCh38
NC_000003.11:g.38793787_38793790delinsGGTT , CM000665.1:g.38793787_38793790delinsGGTT GRCh37
NC_000003.10:g.38768791_38768794delinsGGTT NCBI36
NG_031891.2:g.46712_46715delinsAACC

Transcript Alleles

HGVS Amino-acid Change
ENST00000449082.3:c.1675_1678delinsAACC MANE Select ENSP00000390600.2:p.Asn559=
ENST00000643924.1:c.1675_1678delinsAACC ENSP00000495595.1:p.Asn559=
ENST00000655275.1:c.1702_1705delinsAACC ENSP00000499510.1:p.Asn568=
ENST00000449082.2:c.1675_1678delinsAACC ENSP00000390600.2:p.Asn559=
NM_001293306.2:c.1675_1678delinsAACC NP_001280235.2:p.Asn559=
NM_001293307.2:c.1462-2115_1462-2112delinsAACC NP_001280236.2:n.1462-2115_1462-2112delinsAACC
NM_006514.3:c.1675_1678delinsAACC NP_006505.3:p.Asn559=
XM_005265371.2:c.1684_1687delinsAACC XP_005265428.1:p.Asn562=
XM_011533993.1:c.1684_1687delinsAACC XP_011532295.1:p.Asn562=
XM_011533994.1:c.1471-2115_1471-2112delinsAACC XP_011532296.1:n.1471-2115_1471-2112delinsAACC
XM_005265371.3:c.1684_1687delinsAACC XP_005265428.1:p.Asn562=
XM_011533993.2:c.1684_1687delinsAACC XP_011532295.1:p.Asn562=
XM_011533994.2:c.1471-2115_1471-2112delinsAACC XP_011532296.1:n.1471-2115_1471-2112delinsAACC
NM_006514.4:c.1675_1678delinsAACC MANE Select NP_006505.4:p.Asn559=