Canonical Allele Identifier: CA950429134

Gene: LUM

Linked Data

• dbSNP Id: rs1880066348
• gnomAD v3: 12-91107231-A-AGAGAAAG
• gnomAD v4: 12-91107231-A-AGAGAAAG

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.91107231_91107232insGAGAAAG , CM000674.2:g.91107231_91107232insGAGAAAG	GRCh38
NC_000012.11:g.91501008_91501009insGAGAAAG , CM000674.1:g.91501008_91501009insGAGAAAG	GRCh37
NC_000012.10:g.90025139_90025140insGAGAAAG	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000266718.5:c.862+886_862+887insCTTTCTC MANE Select	ENSP00000266718.4:n.862+886_862+887insCTTTCTC
ENST00000266718.4:c.862+886_862+887insCTTTCTC	ENSP00000266718.4:n.862+886_862+887insCTTTCTC
ENST00000546642.1:n.612+886_612+887insCTTTCTC
ENST00000548071.1:n.255+886_255+887insCTTTCTC
NM_002345.3:c.862+886_862+887insCTTTCTC	NP_002336.1:n.862+886_862+887insCTTTCTC
NM_002345.4:c.862+886_862+887insCTTTCTC MANE Select	NP_002336.1:n.862+886_862+887insCTTTCTC