Canonical Allele Identifier: CA2577554250

Gene: SCN10A

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.38752610_38752611del , CM000665.2:g.38752610_38752611del	GRCh38
NC_000003.11:g.38794101_38794102del , CM000665.1:g.38794101_38794102del	GRCh37
NC_000003.10:g.38769105_38769106del	NCBI36
NG_031891.2:g.46400_46401del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000449082.3:c.1462-99_1462-98del MANE Select	ENSP00000390600.2:n.1462-99_1462-98del
ENST00000643924.1:c.1462-99_1462-98del	ENSP00000495595.1:n.1462-99_1462-98del
ENST00000655275.1:c.1489-99_1489-98del	ENSP00000499510.1:n.1489-99_1489-98del
ENST00000449082.2:c.1462-99_1462-98del	ENSP00000390600.2:n.1462-99_1462-98del
NM_001293306.2:c.1462-99_1462-98del	NP_001280235.2:n.1462-99_1462-98del
NM_001293307.2:c.1462-2427_1462-2426del	NP_001280236.2:n.1462-2427_1462-2426del
NM_006514.3:c.1462-99_1462-98del	NP_006505.3:n.1462-99_1462-98del
XM_005265371.2:c.1471-99_1471-98del	XP_005265428.1:n.1471-99_1471-98del
XM_011533993.1:c.1471-99_1471-98del	XP_011532295.1:n.1471-99_1471-98del
XM_011533994.1:c.1471-2427_1471-2426del	XP_011532296.1:n.1471-2427_1471-2426del
XM_005265371.3:c.1471-99_1471-98del	XP_005265428.1:n.1471-99_1471-98del
XM_011533993.2:c.1471-99_1471-98del	XP_011532295.1:n.1471-99_1471-98del
XM_011533994.2:c.1471-2427_1471-2426del	XP_011532296.1:n.1471-2427_1471-2426del
NM_006514.4:c.1462-99_1462-98del MANE Select	NP_006505.4:n.1462-99_1462-98del