Canonical Allele Identifier: CA2054318136
Gene: LUM HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.91107197_91107199delinsGAA , CM000674.2:g.91107197_91107199delinsGAA GRCh38
NC_000012.11:g.91500974_91500976delinsGAA , CM000674.1:g.91500974_91500976delinsGAA GRCh37
NC_000012.10:g.90025105_90025107delinsGAA NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000266718.5:c.862+919_862+921delinsTTC MANE Select ENSP00000266718.4:n.862+919_862+921delinsTTC
ENST00000266718.4:c.862+919_862+921delinsTTC ENSP00000266718.4:n.862+919_862+921delinsTTC
ENST00000546642.1:n.612+919_612+921delinsTTC
ENST00000548071.1:n.255+919_255+921delinsTTC
NM_002345.3:c.862+919_862+921delinsTTC NP_002336.1:n.862+919_862+921delinsTTC
NM_002345.4:c.862+919_862+921delinsTTC MANE Select NP_002336.1:n.862+919_862+921delinsTTC