Canonical Allele Identifier: CA2054318500
Gene: LUM HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.91107289_91107295delinsGAAAGAA , CM000674.2:g.91107289_91107295delinsGAAAGAA GRCh38
NC_000012.11:g.91501066_91501072delinsGAAAGAA , CM000674.1:g.91501066_91501072delinsGAAAGAA GRCh37
NC_000012.10:g.90025197_90025203delinsGAAAGAA NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000266718.5:c.862+823_862+829delinsTTCTTTC MANE Select ENSP00000266718.4:n.862+823_862+829delinsTTCTTTC
ENST00000266718.4:c.862+823_862+829delinsTTCTTTC ENSP00000266718.4:n.862+823_862+829delinsTTCTTTC
ENST00000546642.1:n.612+823_612+829delinsTTCTTTC
ENST00000548071.1:n.255+823_255+829delinsTTCTTTC
NM_002345.3:c.862+823_862+829delinsTTCTTTC NP_002336.1:n.862+823_862+829delinsTTCTTTC
NM_002345.4:c.862+823_862+829delinsTTCTTTC MANE Select NP_002336.1:n.862+823_862+829delinsTTCTTTC