Canonical Allele Identifier: CA2408210884

Gene: SMC1B

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.45344147_45344150delinsTTTA , CM000684.2:g.45344147_45344150delinsTTTA	GRCh38
NC_000022.10:g.45740028_45740031delinsTTTA , CM000684.1:g.45740028_45740031delinsTTTA	GRCh37
NC_000022.9:g.44118692_44118695delinsTTTA	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000357450.9:c.*406_*409delinsTAAA MANE Select	ENSP00000350036.4:n.*406_*409delinsTAAA
ENST00000357450.8:c.4114_4117delinsTAAA	ENSP00000350036.4:n.4114_4117delinsTAAA
NM_001291501.1:c.*406_*409delinsTAAA	NP_001278430.1:n.*406_*409delinsTAAA
NM_148674.4:c.*406_*409delinsTAAA	NP_683515.4:n.*406_*409delinsTAAA
XM_011530144.1:c.*406_*409delinsTAAA	XP_011528446.1:n.*406_*409delinsTAAA
XR_244368.3:n.4103_4106delinsTAAA
XM_011530144.2:c.*406_*409delinsTAAA	XP_011528446.1:n.*406_*409delinsTAAA
XR_244368.4:n.4148_4151delinsTAAA
NM_148674.5:c.*406_*409delinsTAAA MANE Select	NP_683515.4:n.*406_*409delinsTAAA
NM_001291501.2:c.*406_*409delinsTAAA	NP_001278430.1:n.*406_*409delinsTAAA