Canonical Allele Identifier: CA2054318641
Gene: LUM HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.91107322_91107325delinsAAAG , CM000674.2:g.91107322_91107325delinsAAAG GRCh38
NC_000012.11:g.91501099_91501102delinsAAAG , CM000674.1:g.91501099_91501102delinsAAAG GRCh37
NC_000012.10:g.90025230_90025233delinsAAAG NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000266718.5:c.862+793_862+796delinsCTTT MANE Select ENSP00000266718.4:n.862+793_862+796delinsCTTT
ENST00000266718.4:c.862+793_862+796delinsCTTT ENSP00000266718.4:n.862+793_862+796delinsCTTT
ENST00000546642.1:n.612+793_612+796delinsCTTT
ENST00000548071.1:n.255+793_255+796delinsCTTT
NM_002345.3:c.862+793_862+796delinsCTTT NP_002336.1:n.862+793_862+796delinsCTTT
NM_002345.4:c.862+793_862+796delinsCTTT MANE Select NP_002336.1:n.862+793_862+796delinsCTTT