Canonical Allele Identifier: CA2003367879

Gene: SCN4B

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.118141219_118141222delinsGTCT , CM000673.2:g.118141219_118141222delinsGTCT	GRCh38
NC_000011.9:g.118011934_118011937delinsGTCT , CM000673.1:g.118011934_118011937delinsGTCT	GRCh37
NC_000011.8:g.117517144_117517147delinsGTCT	NCBI36
NG_011710.1:g.16694_16697delinsAGAC , LRG_330:g.16694_16697delinsAGAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000324727.9:c.578_581delinsAGAC MANE Select	ENSP00000322460.4:p.Lys193=
ENST00000324727.8:c.578_581delinsAGAC	ENSP00000322460.4:p.Lys193=
ENST00000415030.6:n.721_724delinsAGAC
ENST00000423160.2:n.212_215delinsAGAC
ENST00000529878.1:c.176_179delinsAGAC	ENSP00000436343.1:p.Lys59=
ENST00000531550.1:n.643_646delinsAGAC
ENST00000532138.1:n.834_837delinsAGAC
NM_001142348.1:c.176_179delinsAGAC	NP_001135820.1:p.Lys59=
NM_001142349.1:c.248_251delinsAGAC	NP_001135821.1:p.Lys83=
NM_174934.3:c.578_581delinsAGAC , LRG_330t1:c.578_581delinsAGAC	NP_777594.1:p.Lys193=
NR_024527.1:n.603_606delinsAGAC
NM_001142348.2:c.176_179delinsAGAC	NP_001135820.1:p.Lys59=
NM_001142349.2:c.248_251delinsAGAC	NP_001135821.1:p.Lys83=
NR_024527.2:n.567_570delinsAGAC
NM_174934.4:c.578_581delinsAGAC MANE Select	NP_777594.1:p.Lys193=