Canonical Allele Identifier: CA2054318173
Gene: LUM HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.91107215_91107220delinsGAGAGA , CM000674.2:g.91107215_91107220delinsGAGAGA GRCh38
NC_000012.11:g.91500992_91500997delinsGAGAGA , CM000674.1:g.91500992_91500997delinsGAGAGA GRCh37
NC_000012.10:g.90025123_90025128delinsGAGAGA NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000266718.5:c.862+898_862+903delinsTCTCTC MANE Select ENSP00000266718.4:n.862+898_862+903delinsTCTCTC
ENST00000266718.4:c.862+898_862+903delinsTCTCTC ENSP00000266718.4:n.862+898_862+903delinsTCTCTC
ENST00000546642.1:n.612+898_612+903delinsTCTCTC
ENST00000548071.1:n.255+898_255+903delinsTCTCTC
NM_002345.3:c.862+898_862+903delinsTCTCTC NP_002336.1:n.862+898_862+903delinsTCTCTC
NM_002345.4:c.862+898_862+903delinsTCTCTC MANE Select NP_002336.1:n.862+898_862+903delinsTCTCTC