Canonical Allele Identifier: CA2320363

Gene: SCN10A

Linked Data

• ExAC: 3:38766834 C / CCAGGGGAGTCCTTGGAACATTTGGGAAGAAGCATGACATCCACGTGCAGAATGTGACAGCCCTCACCCAG
• MyVariant Identifiers: chr3:g.38766834_38766835insCAGGGGAGTCCTTGGAACATTTGGGAAGAAGCATGACATCCACGTGCAGAATGTGACAGCCCTCACCCAG (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.38725343_38725344insCAGGGGAGTCCTTGGAACATTTGGGAAGAAGCATGACATCCACGTGCAGAATGTGACAGCCCTCACCCAG , CM000665.2:g.38725343_38725344insCAGGGGAGTCCTTGGAACATTTGGGAAGAAGCATGACATCCACGTGCAGAATGTGACAGCCCTCACCCAG	GRCh38
NC_000003.11:g.38766834_38766835insCAGGGGAGTCCTTGGAACATTTGGGAAGAAGCATGACATCCACGTGCAGAATGTGACAGCCCTCACCCAG , CM000665.1:g.38766834_38766835insCAGGGGAGTCCTTGGAACATTTGGGAAGAAGCATGACATCCACGTGCAGAATGTGACAGCCCTCACCCAG	GRCh37
NC_000003.10:g.38741838_38741839insCAGGGGAGTCCTTGGAACATTTGGGAAGAAGCATGACATCCACGTGCAGAATGTGACAGCCCTCACCCAG	NCBI36
NG_031891.2:g.73667_73668insCTGGGTGAGGGCTGTCACATTCTGCACGTGGATGTCATGCTTCTTCCCAAATGTTCCAAGGACTCCCCTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000449082.3:c.3088-30_3088-29insCTGGGTGAGGGCTGTCACATTCTGCACGTGGATGTCATGCTTCTTCCCAAATGTTCCAAGGACTCCCCTG MANE Select	ENSP00000390600.2:n.3088-30_3088-29insCTGGGTGAGGGCTGTCACATTCT...
ENST00000643924.1:c.3088-33_3088-32insCTGGGTGAGGGCTGTCACATTCTGCACGTGGATGTCATGCTTCTTCCCAAATGTTCCAAGGACTCCCCTG	ENSP00000495595.1:n.3088-33_3088-32insCTGGGTGAGGGCTGTCACATTCT...
ENST00000655275.1:c.3115-33_3115-32insCTGGGTGAGGGCTGTCACATTCTGCACGTGGATGTCATGCTTCTTCCCAAATGTTCCAAGGACTCCCCTG	ENSP00000499510.1:n.3115-33_3115-32insCTGGGTGAGGGCTGTCACATTCT...
ENST00000449082.2:c.3088-30_3088-29insCTGGGTGAGGGCTGTCACATTCTGCACGTGGATGTCATGCTTCTTCCCAAATGTTCCAAGGACTCCCCTG	ENSP00000390600.2:n.3088-30_3088-29insCTGGGTGAGGGCTGTCACATTCT...
NM_001293306.2:c.3088-33_3088-32insCTGGGTGAGGGCTGTCACATTCTGCACGTGGATGTCATGCTTCTTCCCAAATGTTCCAAGGACTCCCCTG	NP_001280235.2:n.3088-33_3088-32insCTGGGTGAGGGCTGTCACATTCTGCA...
NM_001293307.2:c.2794-30_2794-29insCTGGGTGAGGGCTGTCACATTCTGCACGTGGATGTCATGCTTCTTCCCAAATGTTCCAAGGACTCCCCTG	NP_001280236.2:n.2794-30_2794-29insCTGGGTGAGGGCTGTCACATTCTGCA...
NM_006514.3:c.3088-30_3088-29insCTGGGTGAGGGCTGTCACATTCTGCACGTGGATGTCATGCTTCTTCCCAAATGTTCCAAGGACTCCCCTG	NP_006505.3:n.3088-30_3088-29insCTGGGTGAGGGCTGTCACATTCTGCACGT...
XM_005265371.2:c.3097-30_3097-29insCTGGGTGAGGGCTGTCACATTCTGCACGTGGATGTCATGCTTCTTCCCAAATGTTCCAAGGACTCCCCTG	XP_005265428.1:n.3097-30_3097-29insCTGGGTGAGGGCTGTCACATTCTGCA...
XM_011533993.1:c.3097-33_3097-32insCTGGGTGAGGGCTGTCACATTCTGCACGTGGATGTCATGCTTCTTCCCAAATGTTCCAAGGACTCCCCTG	XP_011532295.1:n.3097-33_3097-32insCTGGGTGAGGGCTGTCACATTCTGCA...
XM_011533994.1:c.2803-30_2803-29insCTGGGTGAGGGCTGTCACATTCTGCACGTGGATGTCATGCTTCTTCCCAAATGTTCCAAGGACTCCCCTG	XP_011532296.1:n.2803-30_2803-29insCTGGGTGAGGGCTGTCACATTCTGCA...
XM_005265371.3:c.3097-30_3097-29insCTGGGTGAGGGCTGTCACATTCTGCACGTGGATGTCATGCTTCTTCCCAAATGTTCCAAGGACTCCCCTG	XP_005265428.1:n.3097-30_3097-29insCTGGGTGAGGGCTGTCACATTCTGCA...
XM_011533993.2:c.3097-33_3097-32insCTGGGTGAGGGCTGTCACATTCTGCACGTGGATGTCATGCTTCTTCCCAAATGTTCCAAGGACTCCCCTG	XP_011532295.1:n.3097-33_3097-32insCTGGGTGAGGGCTGTCACATTCTGCA...
XM_011533994.2:c.2803-30_2803-29insCTGGGTGAGGGCTGTCACATTCTGCACGTGGATGTCATGCTTCTTCCCAAATGTTCCAAGGACTCCCCTG	XP_011532296.1:n.2803-30_2803-29insCTGGGTGAGGGCTGTCACATTCTGCA...
NM_006514.4:c.3088-30_3088-29insCTGGGTGAGGGCTGTCACATTCTGCACGTGGATGTCATGCTTCTTCCCAAATGTTCCAAGGACTCCCCTG MANE Select	NP_006505.4:n.3088-30_3088-29insCTGGGTGAGGGCTGTCACATTCTGCACGT...