Canonical Allele Identifier: CA2054318486
Gene: LUM HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.91107287_91107290delinsGAGA , CM000674.2:g.91107287_91107290delinsGAGA GRCh38
NC_000012.11:g.91501064_91501067delinsGAGA , CM000674.1:g.91501064_91501067delinsGAGA GRCh37
NC_000012.10:g.90025195_90025198delinsGAGA NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000266718.5:c.862+828_862+831delinsTCTC MANE Select ENSP00000266718.4:n.862+828_862+831delinsTCTC
ENST00000266718.4:c.862+828_862+831delinsTCTC ENSP00000266718.4:n.862+828_862+831delinsTCTC
ENST00000546642.1:n.612+828_612+831delinsTCTC
ENST00000548071.1:n.255+828_255+831delinsTCTC
NM_002345.3:c.862+828_862+831delinsTCTC NP_002336.1:n.862+828_862+831delinsTCTC
NM_002345.4:c.862+828_862+831delinsTCTC MANE Select NP_002336.1:n.862+828_862+831delinsTCTC