Canonical Allele Identifier: CA1358653202
Gene: SCN10A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.38752236_38752237delinsCA , CM000665.2:g.38752236_38752237delinsCA GRCh38
NC_000003.11:g.38793727_38793728delinsCA , CM000665.1:g.38793727_38793728delinsCA GRCh37
NC_000003.10:g.38768731_38768732delinsCA NCBI36
NG_031891.2:g.46774_46775delinsTG

Transcript Alleles

HGVS Amino-acid Change
ENST00000449082.3:c.1737_1738delinsTG MANE Select ENSP00000390600.2:p.Pro579=
ENST00000643924.1:c.1737_1738delinsTG ENSP00000495595.1:p.Pro579=
ENST00000655275.1:c.1764_1765delinsTG ENSP00000499510.1:p.Pro588=
ENST00000449082.2:c.1737_1738delinsTG ENSP00000390600.2:p.Pro579=
NM_001293306.2:c.1737_1738delinsTG NP_001280235.2:p.Pro579=
NM_001293307.2:c.1462-2053_1462-2052delinsTG NP_001280236.2:n.1462-2053_1462-2052delinsTG
NM_006514.3:c.1737_1738delinsTG NP_006505.3:p.Pro579=
XM_005265371.2:c.1746_1747delinsTG XP_005265428.1:p.Pro582=
XM_011533993.1:c.1746_1747delinsTG XP_011532295.1:p.Pro582=
XM_011533994.1:c.1471-2053_1471-2052delinsTG XP_011532296.1:n.1471-2053_1471-2052delinsTG
XM_005265371.3:c.1746_1747delinsTG XP_005265428.1:p.Pro582=
XM_011533993.2:c.1746_1747delinsTG XP_011532295.1:p.Pro582=
XM_011533994.2:c.1471-2053_1471-2052delinsTG XP_011532296.1:n.1471-2053_1471-2052delinsTG
NM_006514.4:c.1737_1738delinsTG MANE Select NP_006505.4:p.Pro579=