Canonical Allele Identifier: CA2408210885

Gene: SMC1B

Linked Data

• dbSNP Id: rs2086526013

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.45344151_45344153del , CM000684.2:g.45344151_45344153del	GRCh38
NC_000022.10:g.45740032_45740034del , CM000684.1:g.45740032_45740034del	GRCh37
NC_000022.9:g.44118696_44118698del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000357450.9:c.*406_*408del MANE Select	ENSP00000350036.4:n.*406_*408del
ENST00000357450.8:c.4114_4116del	ENSP00000350036.4:n.4114_4116del
NM_001291501.1:c.*406_*408del	NP_001278430.1:n.*406_*408del
NM_148674.4:c.*406_*408del	NP_683515.4:n.*406_*408del
XM_011530144.1:c.*406_*408del	XP_011528446.1:n.*406_*408del
XR_244368.3:n.4103_4105del
XM_011530144.2:c.*406_*408del	XP_011528446.1:n.*406_*408del
XR_244368.4:n.4148_4150del
NM_148674.5:c.*406_*408del MANE Select	NP_683515.4:n.*406_*408del
NM_001291501.2:c.*406_*408del	NP_001278430.1:n.*406_*408del