Canonical Allele Identifier: CA325066523

Gene: SMC1B

Linked Data

• dbSNP Id: rs940871504
• MyVariant Identifiers: chr22:g.45740041_45740042del (hg19) ; chr22:g.45344160_45344161del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.45344160_45344161del , CM000684.2:g.45344160_45344161del	GRCh38
NC_000022.10:g.45740041_45740042del , CM000684.1:g.45740041_45740042del	GRCh37
NC_000022.9:g.44118705_44118706del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000357450.9:c.*395_*396del MANE Select	ENSP00000350036.4:n.*395_*396del
ENST00000357450.8:c.4103_4104del	ENSP00000350036.4:n.4103_4104del
NM_001291501.1:c.*395_*396del	NP_001278430.1:n.*395_*396del
NM_148674.4:c.*395_*396del	NP_683515.4:n.*395_*396del
XM_011530144.1:c.*395_*396del	XP_011528446.1:n.*395_*396del
XR_244368.3:n.4092_4093del
XM_011530144.2:c.*395_*396del	XP_011528446.1:n.*395_*396del
XR_244368.4:n.4137_4138del
NM_148674.5:c.*395_*396del MANE Select	NP_683515.4:n.*395_*396del
NM_001291501.2:c.*395_*396del	NP_001278430.1:n.*395_*396del