Canonical Allele Identifier: CA950429532

Gene: LUM

Linked Data

• dbSNP Id: rs1279464620
• gnomAD v3: 12-91107273-A-AAGAGAG
• gnomAD v4: 12-91107273-A-AAGAGAG

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.91107276_91107277insGAGAGA , CM000674.2:g.91107276_91107277insGAGAGA	GRCh38
NC_000012.11:g.91501053_91501054insGAGAGA , CM000674.1:g.91501053_91501054insGAGAGA	GRCh37
NC_000012.10:g.90025184_90025185insGAGAGA	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000266718.5:c.862+844_862+845insCTCTCT MANE Select	ENSP00000266718.4:n.862+844_862+845insCTCTCT
ENST00000266718.4:c.862+844_862+845insCTCTCT	ENSP00000266718.4:n.862+844_862+845insCTCTCT
ENST00000546642.1:n.612+844_612+845insCTCTCT
ENST00000548071.1:n.255+844_255+845insCTCTCT
NM_002345.3:c.862+844_862+845insCTCTCT	NP_002336.1:n.862+844_862+845insCTCTCT
NM_002345.4:c.862+844_862+845insCTCTCT MANE Select	NP_002336.1:n.862+844_862+845insCTCTCT