Canonical Allele Identifier: CA2054318449
Gene: LUM HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.91107279_91107327delinsGAAAGAAAGAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA , CM000674.2:g.91107279_91107327delinsGAAAGAAAGAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA GRCh38
NC_000012.11:g.91501056_91501104delinsGAAAGAAAGAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA , CM000674.1:g.91501056_91501104delinsGAAAGAAAGAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA GRCh37
NC_000012.10:g.90025187_90025235delinsGAAAGAAAGAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000266718.5:c.862+791_862+839delinsTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTCTTTCTTTC MANE Select ENSP00000266718.4:n.862+791_862+839delinsTTCTTTCTTTCTTTCTTTCT...
ENST00000266718.4:c.862+791_862+839delinsTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTCTTTCTTTC ENSP00000266718.4:n.862+791_862+839delinsTTCTTTCTTTCTTTCTTTCT...
ENST00000546642.1:n.612+791_612+839delinsTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTCTTTCTTTC
ENST00000548071.1:n.255+791_255+839delinsTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTCTTTCTTTC
NM_002345.3:c.862+791_862+839delinsTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTCTTTCTTTC NP_002336.1:n.862+791_862+839delinsTTCTTTCTTTCTTTCTTTCTTTCTTT...
NM_002345.4:c.862+791_862+839delinsTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTCTTTCTTTC MANE Select NP_002336.1:n.862+791_862+839delinsTTCTTTCTTTCTTTCTTTCTTTCTTT...