Canonical Allele Identifier: CA2665099758

Gene: SCN10A

Linked Data

• gnomAD v4: 3-38725258-TG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.38725261del , CM000665.2:g.38725261del	GRCh38
NC_000003.11:g.38766752del , CM000665.1:g.38766752del	GRCh37
NC_000003.10:g.38741756del	NCBI36
NG_031891.2:g.73752del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000449082.3:c.3143del MANE Select	ENSP00000390600.2:p.Pro1048GlnfsTer?
ENST00000643924.1:c.3140del	ENSP00000495595.1:p.Pro1047GlnfsTer?
ENST00000655275.1:c.3167del	ENSP00000499510.1:p.Pro1056GlnfsTer?
ENST00000449082.2:c.3143del	ENSP00000390600.2:p.Pro1048GlnfsTer?
NM_001293306.2:c.3140del	NP_001280235.2:p.Pro1047GlnfsTer?
NM_001293307.2:c.2849del	NP_001280236.2:p.Pro950GlnfsTer?
NM_006514.3:c.3143del	NP_006505.3:p.Pro1048GlnfsTer?
XM_005265371.2:c.3152del	XP_005265428.1:p.Pro1051GlnfsTer?
XM_011533993.1:c.3149del	XP_011532295.1:p.Pro1050GlnfsTer?
XM_011533994.1:c.2858del	XP_011532296.1:p.Pro953GlnfsTer?
XM_005265371.3:c.3152del	XP_005265428.1:p.Pro1051GlnfsTer?
XM_011533993.2:c.3149del	XP_011532295.1:p.Pro1050GlnfsTer?
XM_011533994.2:c.2858del	XP_011532296.1:p.Pro953GlnfsTer?
NM_006514.4:c.3143del MANE Select	NP_006505.4:p.Pro1048GlnfsTer?