Canonical Allele Identifier: CA2054317955
Gene: LUM HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.91106995_91106998delinsAACC , CM000674.2:g.91106995_91106998delinsAACC GRCh38
NC_000012.11:g.91500772_91500775delinsAACC , CM000674.1:g.91500772_91500775delinsAACC GRCh37
NC_000012.10:g.90024903_90024906delinsAACC NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000266718.5:c.862+1120_862+1123delinsGGTT MANE Select ENSP00000266718.4:n.862+1120_862+1123delinsGGTT
ENST00000266718.4:c.862+1120_862+1123delinsGGTT ENSP00000266718.4:n.862+1120_862+1123delinsGGTT
ENST00000546642.1:n.612+1120_612+1123delinsGGTT
ENST00000548071.1:n.255+1120_255+1123delinsGGTT
NM_002345.3:c.862+1120_862+1123delinsGGTT NP_002336.1:n.862+1120_862+1123delinsGGTT
NM_002345.4:c.862+1120_862+1123delinsGGTT MANE Select NP_002336.1:n.862+1120_862+1123delinsGGTT