Canonical Allele Identifier: CA2054318193
Gene: LUM HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.91107224_91107238delinsAAGAAAGAAAGAAAG , CM000674.2:g.91107224_91107238delinsAAGAAAGAAAGAAAG GRCh38
NC_000012.11:g.91501001_91501015delinsAAGAAAGAAAGAAAG , CM000674.1:g.91501001_91501015delinsAAGAAAGAAAGAAAG GRCh37
NC_000012.10:g.90025132_90025146delinsAAGAAAGAAAGAAAG NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000266718.5:c.862+880_862+894delinsCTTTCTTTCTTTCTT MANE Select ENSP00000266718.4:n.862+880_862+894delinsCTTTCTTTCTTTCTT
ENST00000266718.4:c.862+880_862+894delinsCTTTCTTTCTTTCTT ENSP00000266718.4:n.862+880_862+894delinsCTTTCTTTCTTTCTT
ENST00000546642.1:n.612+880_612+894delinsCTTTCTTTCTTTCTT
ENST00000548071.1:n.255+880_255+894delinsCTTTCTTTCTTTCTT
NM_002345.3:c.862+880_862+894delinsCTTTCTTTCTTTCTT NP_002336.1:n.862+880_862+894delinsCTTTCTTTCTTTCTT
NM_002345.4:c.862+880_862+894delinsCTTTCTTTCTTTCTT MANE Select NP_002336.1:n.862+880_862+894delinsCTTTCTTTCTTTCTT