Canonical Allele Identifier: CA2054317973

Gene: LUM

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.91107028_91107031delinsCTGG , CM000674.2:g.91107028_91107031delinsCTGG	GRCh38
NC_000012.11:g.91500805_91500808delinsCTGG , CM000674.1:g.91500805_91500808delinsCTGG	GRCh37
NC_000012.10:g.90024936_90024939delinsCTGG	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000266718.5:c.862+1087_862+1090delinsCCAG MANE Select	ENSP00000266718.4:n.862+1087_862+1090delinsCCAG
ENST00000266718.4:c.862+1087_862+1090delinsCCAG	ENSP00000266718.4:n.862+1087_862+1090delinsCCAG
ENST00000546642.1:n.612+1087_612+1090delinsCCAG
ENST00000548071.1:n.255+1087_255+1090delinsCCAG
NM_002345.3:c.862+1087_862+1090delinsCCAG	NP_002336.1:n.862+1087_862+1090delinsCCAG
NM_002345.4:c.862+1087_862+1090delinsCCAG MANE Select	NP_002336.1:n.862+1087_862+1090delinsCCAG