Canonical Allele Identifier: CA2561920201

Gene: SCN10A

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.38725272_38725273del , CM000665.2:g.38725272_38725273del	GRCh38
NC_000003.11:g.38766763_38766764del , CM000665.1:g.38766763_38766764del	GRCh37
NC_000003.10:g.38741767_38741768del	NCBI36
NG_031891.2:g.73738_73739del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000449082.3:c.3129_3130del MANE Select	ENSP00000390600.2:p.Pro1045GlnfsTer10
ENST00000643924.1:c.3126_3127del	ENSP00000495595.1:p.Pro1044GlnfsTer10
ENST00000655275.1:c.3153_3154del	ENSP00000499510.1:p.Pro1053GlnfsTer10
ENST00000449082.2:c.3129_3130del	ENSP00000390600.2:p.Pro1045GlnfsTer10
NM_001293306.2:c.3126_3127del	NP_001280235.2:p.Pro1044GlnfsTer10
NM_001293307.2:c.2835_2836del	NP_001280236.2:p.Pro947GlnfsTer10
NM_006514.3:c.3129_3130del	NP_006505.3:p.Pro1045GlnfsTer10
XM_005265371.2:c.3138_3139del	XP_005265428.1:p.Pro1048GlnfsTer10
XM_011533993.1:c.3135_3136del	XP_011532295.1:p.Pro1047GlnfsTer10
XM_011533994.1:c.2844_2845del	XP_011532296.1:p.Pro950GlnfsTer10
XM_005265371.3:c.3138_3139del	XP_005265428.1:p.Pro1048GlnfsTer10
XM_011533993.2:c.3135_3136del	XP_011532295.1:p.Pro1047GlnfsTer10
XM_011533994.2:c.2844_2845del	XP_011532296.1:p.Pro950GlnfsTer10
NM_006514.4:c.3129_3130del MANE Select	NP_006505.4:p.Pro1045GlnfsTer10