Canonical Allele Identifier: CA2054318679
Gene: LUM HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.91107331_91107341delinsAAGAAAGAAAG , CM000674.2:g.91107331_91107341delinsAAGAAAGAAAG GRCh38
NC_000012.11:g.91501108_91501118delinsAAGAAAGAAAG , CM000674.1:g.91501108_91501118delinsAAGAAAGAAAG GRCh37
NC_000012.10:g.90025239_90025249delinsAAGAAAGAAAG NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000266718.5:c.862+777_862+787delinsCTTTCTTTCTT MANE Select ENSP00000266718.4:n.862+777_862+787delinsCTTTCTTTCTT
ENST00000266718.4:c.862+777_862+787delinsCTTTCTTTCTT ENSP00000266718.4:n.862+777_862+787delinsCTTTCTTTCTT
ENST00000546642.1:n.612+777_612+787delinsCTTTCTTTCTT
ENST00000548071.1:n.255+777_255+787delinsCTTTCTTTCTT
NM_002345.3:c.862+777_862+787delinsCTTTCTTTCTT NP_002336.1:n.862+777_862+787delinsCTTTCTTTCTT
NM_002345.4:c.862+777_862+787delinsCTTTCTTTCTT MANE Select NP_002336.1:n.862+777_862+787delinsCTTTCTTTCTT