Canonical Allele Identifier: CA2657274451
Gene: SMC1B HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.45344152del , CM000684.2:g.45344152del GRCh38
NC_000022.10:g.45740033del , CM000684.1:g.45740033del GRCh37
NC_000022.9:g.44118697del NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000357450.9:c.*405del MANE Select ENSP00000350036.4:n.*405del
ENST00000357450.8:c.4113del ENSP00000350036.4:n.4113del
NM_001291501.1:c.*405del NP_001278430.1:n.*405del
NM_148674.4:c.*405del NP_683515.4:n.*405del
XM_011530144.1:c.*405del XP_011528446.1:n.*405del
XR_244368.3:n.4102del
XM_011530144.2:c.*405del XP_011528446.1:n.*405del
XR_244368.4:n.4147del
NM_148674.5:c.*405del MANE Select NP_683515.4:n.*405del
NM_001291501.2:c.*405del NP_001278430.1:n.*405del