Canonical Allele Identifier: CA753642723

Gene: SMC1B

Linked Data

• dbSNP Id: rs1211770669
• MyVariant Identifiers: chr22:g.45740028_45740031del (hg19) ; chr22:g.45344147_45344150del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.45344149_45344152del , CM000684.2:g.45344149_45344152del	GRCh38
NC_000022.10:g.45740030_45740033del , CM000684.1:g.45740030_45740033del	GRCh37
NC_000022.9:g.44118694_44118697del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000357450.9:c.*406_*409del MANE Select	ENSP00000350036.4:n.*406_*409del
ENST00000357450.8:c.4114_4117del	ENSP00000350036.4:n.4114_4117del
NM_001291501.1:c.*406_*409del	NP_001278430.1:n.*406_*409del
NM_148674.4:c.*406_*409del	NP_683515.4:n.*406_*409del
XM_011530144.1:c.*406_*409del	XP_011528446.1:n.*406_*409del
XR_244368.3:n.4103_4106del
XM_011530144.2:c.*406_*409del	XP_011528446.1:n.*406_*409del
XR_244368.4:n.4148_4151del
NM_148674.5:c.*406_*409del MANE Select	NP_683515.4:n.*406_*409del
NM_001291501.2:c.*406_*409del	NP_001278430.1:n.*406_*409del