Canonical Allele Identifier: CA2054318468

Gene: LUM

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.91107283_91107327delinsGAAAGAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA , CM000674.2:g.91107283_91107327delinsGAAAGAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA	GRCh38
NC_000012.11:g.91501060_91501104delinsGAAAGAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA , CM000674.1:g.91501060_91501104delinsGAAAGAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA	GRCh37
NC_000012.10:g.90025191_90025235delinsGAAAGAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000266718.5:c.862+791_862+835delinsTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTCTTTC MANE Select	ENSP00000266718.4:n.862+791_862+835delins...
ENST00000266718.4:c.862+791_862+835delinsTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTCTTTC	ENSP00000266718.4:n.862+791_862+835delins...
ENST00000546642.1:n.612+791_612+835delinsTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTCTTTC
ENST00000548071.1:n.255+791_255+835delinsTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTCTTTC
NM_002345.3:c.862+791_862+835delinsTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTCTTTC	NP_002336.1:n.862+791_862+835delinsTTCTTT...
NM_002345.4:c.862+791_862+835delinsTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTCTTTC MANE Select	NP_002336.1:n.862+791_862+835delinsTTCTTT...