Canonical Allele Identifier: CA1358653332

Gene: SCN10A

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.38752485_38752486delinsGT , CM000665.2:g.38752485_38752486delinsGT	GRCh38
NC_000003.11:g.38793976_38793977delinsGT , CM000665.1:g.38793976_38793977delinsGT	GRCh37
NC_000003.10:g.38768980_38768981delinsGT	NCBI36
NG_031891.2:g.46525_46526delinsAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000449082.3:c.1488_1489delinsAC MANE Select	ENSP00000390600.2:p.Lys496=
ENST00000643924.1:c.1488_1489delinsAC	ENSP00000495595.1:p.Lys496=
ENST00000655275.1:c.1515_1516delinsAC	ENSP00000499510.1:p.Lys505=
ENST00000449082.2:c.1488_1489delinsAC	ENSP00000390600.2:p.Lys496=
NM_001293306.2:c.1488_1489delinsAC	NP_001280235.2:p.Lys496=
NM_001293307.2:c.1462-2302_1462-2301delinsAC	NP_001280236.2:n.1462-2302_1462-2301delinsAC
NM_006514.3:c.1488_1489delinsAC	NP_006505.3:p.Lys496=
XM_005265371.2:c.1497_1498delinsAC	XP_005265428.1:p.Lys499=
XM_011533993.1:c.1497_1498delinsAC	XP_011532295.1:p.Lys499=
XM_011533994.1:c.1471-2302_1471-2301delinsAC	XP_011532296.1:n.1471-2302_1471-2301delinsAC
XM_005265371.3:c.1497_1498delinsAC	XP_005265428.1:p.Lys499=
XM_011533993.2:c.1497_1498delinsAC	XP_011532295.1:p.Lys499=
XM_011533994.2:c.1471-2302_1471-2301delinsAC	XP_011532296.1:n.1471-2302_1471-2301delinsAC
NM_006514.4:c.1488_1489delinsAC MANE Select	NP_006505.4:p.Lys496=