Canonical Allele Identifier: CA2054318186
Gene: LUM HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.91107220_91107223delinsAAAG , CM000674.2:g.91107220_91107223delinsAAAG GRCh38
NC_000012.11:g.91500997_91501000delinsAAAG , CM000674.1:g.91500997_91501000delinsAAAG GRCh37
NC_000012.10:g.90025128_90025131delinsAAAG NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000266718.5:c.862+895_862+898delinsCTTT MANE Select ENSP00000266718.4:n.862+895_862+898delinsCTTT
ENST00000266718.4:c.862+895_862+898delinsCTTT ENSP00000266718.4:n.862+895_862+898delinsCTTT
ENST00000546642.1:n.612+895_612+898delinsCTTT
ENST00000548071.1:n.255+895_255+898delinsCTTT
NM_002345.3:c.862+895_862+898delinsCTTT NP_002336.1:n.862+895_862+898delinsCTTT
NM_002345.4:c.862+895_862+898delinsCTTT MANE Select NP_002336.1:n.862+895_862+898delinsCTTT