Canonical Allele Identifier: CA1358639704

Gene: SCN10A

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.38723405_38723406delinsAG , CM000665.2:g.38723405_38723406delinsAG	GRCh38
NC_000003.11:g.38764896_38764897delinsAG , CM000665.1:g.38764896_38764897delinsAG	GRCh37
NC_000003.10:g.38739900_38739901delinsAG	NCBI36
NG_031891.2:g.75605_75606delinsCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000449082.3:c.3352+24_3352+25delinsCT MANE Select	ENSP00000390600.2:n.3352+24_3352+25delinsCT
ENST00000643924.1:c.3349+24_3349+25delinsCT	ENSP00000495595.1:n.3349+24_3349+25delinsCT
ENST00000655275.1:c.3376+24_3376+25delinsCT	ENSP00000499510.1:n.3376+24_3376+25delinsCT
ENST00000449082.2:c.3352+24_3352+25delinsCT	ENSP00000390600.2:n.3352+24_3352+25delinsCT
NM_001293306.2:c.3349+24_3349+25delinsCT	NP_001280235.2:n.3349+24_3349+25delinsCT
NM_001293307.2:c.3058+24_3058+25delinsCT	NP_001280236.2:n.3058+24_3058+25delinsCT
NM_006514.3:c.3352+24_3352+25delinsCT	NP_006505.3:n.3352+24_3352+25delinsCT
XM_005265371.2:c.3361+24_3361+25delinsCT	XP_005265428.1:n.3361+24_3361+25delinsCT
XM_011533993.1:c.3358+24_3358+25delinsCT	XP_011532295.1:n.3358+24_3358+25delinsCT
XM_011533994.1:c.3067+24_3067+25delinsCT	XP_011532296.1:n.3067+24_3067+25delinsCT
XM_005265371.3:c.3361+24_3361+25delinsCT	XP_005265428.1:n.3361+24_3361+25delinsCT
XM_011533993.2:c.3358+24_3358+25delinsCT	XP_011532295.1:n.3358+24_3358+25delinsCT
XM_011533994.2:c.3067+24_3067+25delinsCT	XP_011532296.1:n.3067+24_3067+25delinsCT
NM_006514.4:c.3352+24_3352+25delinsCT MANE Select	NP_006505.4:n.3352+24_3352+25delinsCT