Canonical Allele Identifier: CA2665119513

Gene: SCN10A

Linked Data

• gnomAD v4: 3-38698316-TC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.38698319del , CM000665.2:g.38698319del	GRCh38
NC_000003.11:g.38739810del , CM000665.1:g.38739810del	GRCh37
NC_000003.10:g.38714814del	NCBI36
NG_031891.2:g.100694del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000449082.3:c.4903del MANE Select	ENSP00000390600.2:p.Glu1635ArgfsTer?
ENST00000643924.1:c.4900del	ENSP00000495595.1:p.Glu1634ArgfsTer?
ENST00000655275.1:c.4927del	ENSP00000499510.1:p.Glu1643ArgfsTer?
ENST00000449082.2:c.4903del	ENSP00000390600.2:p.Glu1635ArgfsTer?
NM_001293306.2:c.4900del	NP_001280235.2:p.Glu1634ArgfsTer?
NM_001293307.2:c.4609del	NP_001280236.2:p.Glu1537ArgfsTer?
NM_006514.3:c.4903del	NP_006505.3:p.Glu1635ArgfsTer?
XM_005265371.2:c.4912del	XP_005265428.1:p.Glu1638ArgfsTer?
XM_011533993.1:c.4909del	XP_011532295.1:p.Glu1637ArgfsTer?
XM_011533994.1:c.4618del	XP_011532296.1:p.Glu1540ArgfsTer?
XM_005265371.3:c.4912del	XP_005265428.1:p.Glu1638ArgfsTer?
XM_011533993.2:c.4909del	XP_011532295.1:p.Glu1637ArgfsTer?
XM_011533994.2:c.4618del	XP_011532296.1:p.Glu1540ArgfsTer?
NM_006514.4:c.4903del MANE Select	NP_006505.4:p.Glu1635ArgfsTer?