Canonical Allele Identifier: CA2582342849

Gene: SCN10A

Linked Data

• ClinVar Variation Id: 2622236
• ClinVar RCV Id: RCV004365709

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.38725272_38725284delinsGAAGATGTTCCAGTGCCTGG , CM000665.2:g.38725272_38725284delinsGAAGATGTTCCAGTGCCTGG	GRCh38
NC_000003.11:g.38766763_38766775delinsGAAGATGTTCCAGTGCCTGG , CM000665.1:g.38766763_38766775delinsGAAGATGTTCCAGTGCCTGG	GRCh37
NC_000003.10:g.38741767_38741779delinsGAAGATGTTCCAGTGCCTGG	NCBI36
NG_031891.2:g.73727_73739delinsCCAGGCACTGGAACATCTTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000449082.3:c.3118_3130delinsCCAGGCACTGGAACATCTTC MANE Select	ENSP00000390600.2:p.Gly1040ProfsTer18
ENST00000643924.1:c.3115_3127delinsCCAGGCACTGGAACATCTTC	ENSP00000495595.1:p.Gly1039ProfsTer18
ENST00000655275.1:c.3142_3154delinsCCAGGCACTGGAACATCTTC	ENSP00000499510.1:p.Gly1048ProfsTer18
ENST00000449082.2:c.3118_3130delinsCCAGGCACTGGAACATCTTC	ENSP00000390600.2:p.Gly1040ProfsTer18
NM_001293306.2:c.3115_3127delinsCCAGGCACTGGAACATCTTC	NP_001280235.2:p.Gly1039ProfsTer18
NM_001293307.2:c.2824_2836delinsCCAGGCACTGGAACATCTTC	NP_001280236.2:p.Gly942ProfsTer18
NM_006514.3:c.3118_3130delinsCCAGGCACTGGAACATCTTC	NP_006505.3:p.Gly1040ProfsTer18
XM_005265371.2:c.3127_3139delinsCCAGGCACTGGAACATCTTC	XP_005265428.1:p.Gly1043ProfsTer18
XM_011533993.1:c.3124_3136delinsCCAGGCACTGGAACATCTTC	XP_011532295.1:p.Gly1042ProfsTer18
XM_011533994.1:c.2833_2845delinsCCAGGCACTGGAACATCTTC	XP_011532296.1:p.Gly945ProfsTer18
XM_005265371.3:c.3127_3139delinsCCAGGCACTGGAACATCTTC	XP_005265428.1:p.Gly1043ProfsTer18
XM_011533993.2:c.3124_3136delinsCCAGGCACTGGAACATCTTC	XP_011532295.1:p.Gly1042ProfsTer18
XM_011533994.2:c.2833_2845delinsCCAGGCACTGGAACATCTTC	XP_011532296.1:p.Gly945ProfsTer18
NM_006514.4:c.3118_3130delinsCCAGGCACTGGAACATCTTC MANE Select	NP_006505.4:p.Gly1040ProfsTer18