Canonical Allele Identifier: CA2054318090

Gene: LUM

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.91107171_91107173delinsGAA , CM000674.2:g.91107171_91107173delinsGAA	GRCh38
NC_000012.11:g.91500948_91500950delinsGAA , CM000674.1:g.91500948_91500950delinsGAA	GRCh37
NC_000012.10:g.90025079_90025081delinsGAA	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000266718.5:c.862+945_862+947delinsTTC MANE Select	ENSP00000266718.4:n.862+945_862+947delinsTTC
ENST00000266718.4:c.862+945_862+947delinsTTC	ENSP00000266718.4:n.862+945_862+947delinsTTC
ENST00000546642.1:n.612+945_612+947delinsTTC
ENST00000548071.1:n.255+945_255+947delinsTTC
NM_002345.3:c.862+945_862+947delinsTTC	NP_002336.1:n.862+945_862+947delinsTTC
NM_002345.4:c.862+945_862+947delinsTTC MANE Select	NP_002336.1:n.862+945_862+947delinsTTC