Canonical Allele Identifier: CA2054318595
Gene: LUM HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.91107311_91107325delinsAAGAAAGAAAGAAAG , CM000674.2:g.91107311_91107325delinsAAGAAAGAAAGAAAG GRCh38
NC_000012.11:g.91501088_91501102delinsAAGAAAGAAAGAAAG , CM000674.1:g.91501088_91501102delinsAAGAAAGAAAGAAAG GRCh37
NC_000012.10:g.90025219_90025233delinsAAGAAAGAAAGAAAG NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000266718.5:c.862+793_862+807delinsCTTTCTTTCTTTCTT MANE Select ENSP00000266718.4:n.862+793_862+807delinsCTTTCTTTCTTTCTT
ENST00000266718.4:c.862+793_862+807delinsCTTTCTTTCTTTCTT ENSP00000266718.4:n.862+793_862+807delinsCTTTCTTTCTTTCTT
ENST00000546642.1:n.612+793_612+807delinsCTTTCTTTCTTTCTT
ENST00000548071.1:n.255+793_255+807delinsCTTTCTTTCTTTCTT
NM_002345.3:c.862+793_862+807delinsCTTTCTTTCTTTCTT NP_002336.1:n.862+793_862+807delinsCTTTCTTTCTTTCTT
NM_002345.4:c.862+793_862+807delinsCTTTCTTTCTTTCTT MANE Select NP_002336.1:n.862+793_862+807delinsCTTTCTTTCTTTCTT