Canonical Allele Identifier: CA2665099208

Gene: SCN10A

Linked Data

• gnomAD v4: 3-38725081-AC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.38725085del , CM000665.2:g.38725085del	GRCh38
NC_000003.11:g.38766576del , CM000665.1:g.38766576del	GRCh37
NC_000003.10:g.38741580del	NCBI36
NG_031891.2:g.73929del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000449082.3:c.3228+92del MANE Select	ENSP00000390600.2:n.3228+92del
ENST00000643924.1:c.3225+92del	ENSP00000495595.1:n.3225+92del
ENST00000655275.1:c.3252+92del	ENSP00000499510.1:n.3252+92del
ENST00000449082.2:c.3228+92del	ENSP00000390600.2:n.3228+92del
NM_001293306.2:c.3225+92del	NP_001280235.2:n.3225+92del
NM_001293307.2:c.2934+92del	NP_001280236.2:n.2934+92del
NM_006514.3:c.3228+92del	NP_006505.3:n.3228+92del
XM_005265371.2:c.3237+92del	XP_005265428.1:n.3237+92del
XM_011533993.1:c.3234+92del	XP_011532295.1:n.3234+92del
XM_011533994.1:c.2943+92del	XP_011532296.1:n.2943+92del
XM_005265371.3:c.3237+92del	XP_005265428.1:n.3237+92del
XM_011533993.2:c.3234+92del	XP_011532295.1:n.3234+92del
XM_011533994.2:c.2943+92del	XP_011532296.1:n.2943+92del
NM_006514.4:c.3228+92del MANE Select	NP_006505.4:n.3228+92del