Canonical Allele Identifier: CA2003369037

Gene: SCN4B

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.118143918_118143920delinsCGT , CM000673.2:g.118143918_118143920delinsCGT	GRCh38
NC_000011.9:g.118014633_118014635delinsCGT , CM000673.1:g.118014633_118014635delinsCGT	GRCh37
NC_000011.8:g.117519843_117519845delinsCGT	NCBI36
NG_011710.1:g.13996_13998delinsACG , LRG_330:g.13996_13998delinsACG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000324727.9:c.376_378delinsACG MANE Select	ENSP00000322460.4:p.Thr126=
ENST00000324727.8:c.376_378delinsACG	ENSP00000322460.4:p.Thr126=
ENST00000415030.6:n.519_521delinsACG
ENST00000529878.1:c.62-2584_62-2582delinsACG	ENSP00000436343.1:n.62-2584_62-2582delinsACG
ENST00000532138.1:n.719+67_719+69delinsACG
NM_001142348.1:c.62-2584_62-2582delinsACG	NP_001135820.1:n.62-2584_62-2582delinsACG
NM_001142349.1:c.46_48delinsACG	NP_001135821.1:p.Thr16=
NM_174934.3:c.376_378delinsACG , LRG_330t1:c.376_378delinsACG	NP_777594.1:p.Thr126=
NR_024527.1:n.488+67_488+69delinsACG
NM_001142348.2:c.62-2584_62-2582delinsACG	NP_001135820.1:n.62-2584_62-2582delinsACG
NM_001142349.2:c.46_48delinsACG	NP_001135821.1:p.Thr16=
NR_024527.2:n.452+67_452+69delinsACG
NM_174934.4:c.376_378delinsACG MANE Select	NP_777594.1:p.Thr126=