Canonical Allele Identifier: CA2054318715
Gene: LUM HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.91107343_91107347delinsAAGGG , CM000674.2:g.91107343_91107347delinsAAGGG GRCh38
NC_000012.11:g.91501120_91501124delinsAAGGG , CM000674.1:g.91501120_91501124delinsAAGGG GRCh37
NC_000012.10:g.90025251_90025255delinsAAGGG NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000266718.5:c.862+771_862+775delinsCCCTT MANE Select ENSP00000266718.4:n.862+771_862+775delinsCCCTT
ENST00000266718.4:c.862+771_862+775delinsCCCTT ENSP00000266718.4:n.862+771_862+775delinsCCCTT
ENST00000546642.1:n.612+771_612+775delinsCCCTT
ENST00000548071.1:n.255+771_255+775delinsCCCTT
NM_002345.3:c.862+771_862+775delinsCCCTT NP_002336.1:n.862+771_862+775delinsCCCTT
NM_002345.4:c.862+771_862+775delinsCCCTT MANE Select NP_002336.1:n.862+771_862+775delinsCCCTT