Canonical Allele Identifier: CA2657274457

Gene: SMC1B

Linked Data

• gnomAD v4: 22-45344165-A-ACAG

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.45344166_45344167insAGC , CM000684.2:g.45344166_45344167insAGC	GRCh38
NC_000022.10:g.45740047_45740048insAGC , CM000684.1:g.45740047_45740048insAGC	GRCh37
NC_000022.9:g.44118711_44118712insAGC	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000357450.9:c.*390_*391insCTG MANE Select	ENSP00000350036.4:n.*390_*391insCTG
ENST00000357450.8:c.4098_4099insCTG	ENSP00000350036.4:n.4098_4099insCTG
NM_001291501.1:c.*390_*391insCTG	NP_001278430.1:n.*390_*391insCTG
NM_148674.4:c.*390_*391insCTG	NP_683515.4:n.*390_*391insCTG
XM_011530144.1:c.*390_*391insCTG	XP_011528446.1:n.*390_*391insCTG
XR_244368.3:n.4087_4088insCTG
XM_011530144.2:c.*390_*391insCTG	XP_011528446.1:n.*390_*391insCTG
XR_244368.4:n.4132_4133insCTG
NM_148674.5:c.*390_*391insCTG MANE Select	NP_683515.4:n.*390_*391insCTG
NM_001291501.2:c.*390_*391insCTG	NP_001278430.1:n.*390_*391insCTG