Canonical Allele Identifier: CA2054318689
Gene: LUM HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.91107333_91107336delinsGAAA , CM000674.2:g.91107333_91107336delinsGAAA GRCh38
NC_000012.11:g.91501110_91501113delinsGAAA , CM000674.1:g.91501110_91501113delinsGAAA GRCh37
NC_000012.10:g.90025241_90025244delinsGAAA NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000266718.5:c.862+782_862+785delinsTTTC MANE Select ENSP00000266718.4:n.862+782_862+785delinsTTTC
ENST00000266718.4:c.862+782_862+785delinsTTTC ENSP00000266718.4:n.862+782_862+785delinsTTTC
ENST00000546642.1:n.612+782_612+785delinsTTTC
ENST00000548071.1:n.255+782_255+785delinsTTTC
NM_002345.3:c.862+782_862+785delinsTTTC NP_002336.1:n.862+782_862+785delinsTTTC
NM_002345.4:c.862+782_862+785delinsTTTC MANE Select NP_002336.1:n.862+782_862+785delinsTTTC