Canonical Allele Identifier: CA2665121392

Gene: SCN10A

Linked Data

• gnomAD v4: 3-38752612-G-GCAGAGAAGCACTGATAAGAAATATGGGGTCAAATGGAATATAA

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.38752612_38752613insCAGAGAAGCACTGATAAGAAATATGGGGTCAAATGGAATATAA , CM000665.2:g.38752612_38752613insCAGAGAAGCACTGATAAGAAATATGGGGTCAAATGGAATATAA	GRCh38
NC_000003.11:g.38794103_38794104insCAGAGAAGCACTGATAAGAAATATGGGGTCAAATGGAATATAA , CM000665.1:g.38794103_38794104insCAGAGAAGCACTGATAAGAAATATGGGGTCAAATGGAATATAA	GRCh37
NC_000003.10:g.38769107_38769108insCAGAGAAGCACTGATAAGAAATATGGGGTCAAATGGAATATAA	NCBI36
NG_031891.2:g.46398_46399insTTATATTCCATTTGACCCCATATTTCTTATCAGTGCTTCTCTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000449082.3:c.1462-101_1462-100insTTATATTCCATTTGACCCCATATTTCTTATCAGTGCTTCTCTG MANE Select	ENSP00000390600.2:n.1462-101_1462-100insTTATATTCCATTTGACCCCAT...
ENST00000643924.1:c.1462-101_1462-100insTTATATTCCATTTGACCCCATATTTCTTATCAGTGCTTCTCTG	ENSP00000495595.1:n.1462-101_1462-100insTTATATTCCATTTGACCCCAT...
ENST00000655275.1:c.1489-101_1489-100insTTATATTCCATTTGACCCCATATTTCTTATCAGTGCTTCTCTG	ENSP00000499510.1:n.1489-101_1489-100insTTATATTCCATTTGACCCCAT...
ENST00000449082.2:c.1462-101_1462-100insTTATATTCCATTTGACCCCATATTTCTTATCAGTGCTTCTCTG	ENSP00000390600.2:n.1462-101_1462-100insTTATATTCCATTTGACCCCAT...
NM_001293306.2:c.1462-101_1462-100insTTATATTCCATTTGACCCCATATTTCTTATCAGTGCTTCTCTG	NP_001280235.2:n.1462-101_1462-100insTTATATTCCATTTGACCCCATATT...
NM_001293307.2:c.1462-2429_1462-2428insTTATATTCCATTTGACCCCATATTTCTTATCAGTGCTTCTCTG	NP_001280236.2:n.1462-2429_1462-2428insTTATATTCCATTTGACCCCATA...
NM_006514.3:c.1462-101_1462-100insTTATATTCCATTTGACCCCATATTTCTTATCAGTGCTTCTCTG	NP_006505.3:n.1462-101_1462-100insTTATATTCCATTTGACCCCATATTTCT...
XM_005265371.2:c.1471-101_1471-100insTTATATTCCATTTGACCCCATATTTCTTATCAGTGCTTCTCTG	XP_005265428.1:n.1471-101_1471-100insTTATATTCCATTTGACCCCATATT...
XM_011533993.1:c.1471-101_1471-100insTTATATTCCATTTGACCCCATATTTCTTATCAGTGCTTCTCTG	XP_011532295.1:n.1471-101_1471-100insTTATATTCCATTTGACCCCATATT...
XM_011533994.1:c.1471-2429_1471-2428insTTATATTCCATTTGACCCCATATTTCTTATCAGTGCTTCTCTG	XP_011532296.1:n.1471-2429_1471-2428insTTATATTCCATTTGACCCCATA...
XM_005265371.3:c.1471-101_1471-100insTTATATTCCATTTGACCCCATATTTCTTATCAGTGCTTCTCTG	XP_005265428.1:n.1471-101_1471-100insTTATATTCCATTTGACCCCATATT...
XM_011533993.2:c.1471-101_1471-100insTTATATTCCATTTGACCCCATATTTCTTATCAGTGCTTCTCTG	XP_011532295.1:n.1471-101_1471-100insTTATATTCCATTTGACCCCATATT...
XM_011533994.2:c.1471-2429_1471-2428insTTATATTCCATTTGACCCCATATTTCTTATCAGTGCTTCTCTG	XP_011532296.1:n.1471-2429_1471-2428insTTATATTCCATTTGACCCCATA...
NM_006514.4:c.1462-101_1462-100insTTATATTCCATTTGACCCCATATTTCTTATCAGTGCTTCTCTG MANE Select	NP_006505.4:n.1462-101_1462-100insTTATATTCCATTTGACCCCATATTTCT...