Canonical Allele Identifier: CA2054318688
Gene: LUM HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.91107333_91107339delinsGAAAGAA , CM000674.2:g.91107333_91107339delinsGAAAGAA GRCh38
NC_000012.11:g.91501110_91501116delinsGAAAGAA , CM000674.1:g.91501110_91501116delinsGAAAGAA GRCh37
NC_000012.10:g.90025241_90025247delinsGAAAGAA NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000266718.5:c.862+779_862+785delinsTTCTTTC MANE Select ENSP00000266718.4:n.862+779_862+785delinsTTCTTTC
ENST00000266718.4:c.862+779_862+785delinsTTCTTTC ENSP00000266718.4:n.862+779_862+785delinsTTCTTTC
ENST00000546642.1:n.612+779_612+785delinsTTCTTTC
ENST00000548071.1:n.255+779_255+785delinsTTCTTTC
NM_002345.3:c.862+779_862+785delinsTTCTTTC NP_002336.1:n.862+779_862+785delinsTTCTTTC
NM_002345.4:c.862+779_862+785delinsTTCTTTC MANE Select NP_002336.1:n.862+779_862+785delinsTTCTTTC