Canonical Allele Identifier: CA2840721422

Gene: SCN4B

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.118143779del , CM000673.2:g.118143779del	GRCh38
NC_000011.9:g.118014494del , CM000673.1:g.118014494del	GRCh37
NC_000011.8:g.117519704del	NCBI36
NG_011710.1:g.14139del , LRG_330:g.14139del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000324727.9:c.463+56del MANE Select	ENSP00000322460.4:n.463+56del
ENST00000324727.8:c.463+56del	ENSP00000322460.4:n.463+56del
ENST00000415030.6:n.606+56del
ENST00000529878.1:c.62-2441del	ENSP00000436343.1:n.62-2441del
ENST00000532138.1:n.719+210del
NM_001142348.1:c.62-2441del	NP_001135820.1:n.62-2441del
NM_001142349.1:c.133+56del	NP_001135821.1:n.133+56del
NM_174934.3:c.463+56del , LRG_330t1:c.463+56del	NP_777594.1:n.463+56del
NR_024527.1:n.488+210del
NM_001142348.2:c.62-2441del	NP_001135820.1:n.62-2441del
NM_001142349.2:c.133+56del	NP_001135821.1:n.133+56del
NR_024527.2:n.452+210del
NM_174934.4:c.463+56del MANE Select	NP_777594.1:n.463+56del