Canonical Allele Identifier: CA2591117534
Gene: SMC1B HGNC NCBI

Linked Data

gnomAD v3: 22-45344066-GA-G
gnomAD v4: 22-45344066-GA-G
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.45344069del , CM000684.2:g.45344069del GRCh38
NC_000022.10:g.45739950del , CM000684.1:g.45739950del GRCh37
NC_000022.9:g.44118614del NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000357450.9:c.*489del MANE Select ENSP00000350036.4:n.*489del
ENST00000357450.8:c.4197del ENSP00000350036.4:n.4197del
NM_001291501.1:c.*489del NP_001278430.1:n.*489del
NM_148674.4:c.*489del NP_683515.4:n.*489del
XM_011530144.1:c.*489del XP_011528446.1:n.*489del
XR_244368.3:n.4186del
XM_011530144.2:c.*489del XP_011528446.1:n.*489del
XR_244368.4:n.4231del
NM_148674.5:c.*489del MANE Select NP_683515.4:n.*489del
NM_001291501.2:c.*489del NP_001278430.1:n.*489del
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