Canonical Allele Identifier: CA2054318674
Gene: LUM HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.91107330_91107346delinsAAAGAAAGAAAGAAAGG , CM000674.2:g.91107330_91107346delinsAAAGAAAGAAAGAAAGG GRCh38
NC_000012.11:g.91501107_91501123delinsAAAGAAAGAAAGAAAGG , CM000674.1:g.91501107_91501123delinsAAAGAAAGAAAGAAAGG GRCh37
NC_000012.10:g.90025238_90025254delinsAAAGAAAGAAAGAAAGG NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000266718.5:c.862+772_862+788delinsCCTTTCTTTCTTTCTTT MANE Select ENSP00000266718.4:n.862+772_862+788delinsCCTTTCTTTCTTTCTTT
ENST00000266718.4:c.862+772_862+788delinsCCTTTCTTTCTTTCTTT ENSP00000266718.4:n.862+772_862+788delinsCCTTTCTTTCTTTCTTT
ENST00000546642.1:n.612+772_612+788delinsCCTTTCTTTCTTTCTTT
ENST00000548071.1:n.255+772_255+788delinsCCTTTCTTTCTTTCTTT
NM_002345.3:c.862+772_862+788delinsCCTTTCTTTCTTTCTTT NP_002336.1:n.862+772_862+788delinsCCTTTCTTTCTTTCTTT
NM_002345.4:c.862+772_862+788delinsCCTTTCTTTCTTTCTTT MANE Select NP_002336.1:n.862+772_862+788delinsCCTTTCTTTCTTTCTTT