Canonical Allele Identifier: CA2665121313

Gene: SCN10A

Linked Data

• gnomAD v4: 3-38752506-GA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.38752510del , CM000665.2:g.38752510del	GRCh38
NC_000003.11:g.38794001del , CM000665.1:g.38794001del	GRCh37
NC_000003.10:g.38769005del	NCBI36
NG_031891.2:g.46504del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000449082.3:c.1467del MANE Select	ENSP00000390600.2:p.Leu490Ter
ENST00000643924.1:c.1467del	ENSP00000495595.1:p.Leu490Ter
ENST00000655275.1:c.1494del	ENSP00000499510.1:p.Leu499Ter
ENST00000449082.2:c.1467del	ENSP00000390600.2:p.Leu490Ter
NM_001293306.2:c.1467del	NP_001280235.2:p.Leu490Ter
NM_001293307.2:c.1462-2323del	NP_001280236.2:n.1462-2323del
NM_006514.3:c.1467del	NP_006505.3:p.Leu490Ter
XM_005265371.2:c.1476del	XP_005265428.1:p.Leu493Ter
XM_011533993.1:c.1476del	XP_011532295.1:p.Leu493Ter
XM_011533994.1:c.1471-2323del	XP_011532296.1:n.1471-2323del
XM_005265371.3:c.1476del	XP_005265428.1:p.Leu493Ter
XM_011533993.2:c.1476del	XP_011532295.1:p.Leu493Ter
XM_011533994.2:c.1471-2323del	XP_011532296.1:n.1471-2323del
NM_006514.4:c.1467del MANE Select	NP_006505.4:p.Leu490Ter