Canonical Allele Identifier: CA2408210883

Gene: SMC1B

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.45344146_45344150delinsGTTTA , CM000684.2:g.45344146_45344150delinsGTTTA	GRCh38
NC_000022.10:g.45740027_45740031delinsGTTTA , CM000684.1:g.45740027_45740031delinsGTTTA	GRCh37
NC_000022.9:g.44118691_44118695delinsGTTTA	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000357450.9:c.*406_*410delinsTAAAC MANE Select	ENSP00000350036.4:n.*406_*410delinsTAAAC
ENST00000357450.8:c.4114_4118delinsTAAAC	ENSP00000350036.4:n.4114_4118delinsTAAAC
NM_001291501.1:c.*406_*410delinsTAAAC	NP_001278430.1:n.*406_*410delinsTAAAC
NM_148674.4:c.*406_*410delinsTAAAC	NP_683515.4:n.*406_*410delinsTAAAC
XM_011530144.1:c.*406_*410delinsTAAAC	XP_011528446.1:n.*406_*410delinsTAAAC
XR_244368.3:n.4103_4107delinsTAAAC
XM_011530144.2:c.*406_*410delinsTAAAC	XP_011528446.1:n.*406_*410delinsTAAAC
XR_244368.4:n.4148_4152delinsTAAAC
NM_148674.5:c.*406_*410delinsTAAAC MANE Select	NP_683515.4:n.*406_*410delinsTAAAC
NM_001291501.2:c.*406_*410delinsTAAAC	NP_001278430.1:n.*406_*410delinsTAAAC