Canonical Allele Identifier: CA2054318608

Gene: LUM

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.91107313_91107327delinsGAAAGAAAGAAAGAA , CM000674.2:g.91107313_91107327delinsGAAAGAAAGAAAGAA	GRCh38
NC_000012.11:g.91501090_91501104delinsGAAAGAAAGAAAGAA , CM000674.1:g.91501090_91501104delinsGAAAGAAAGAAAGAA	GRCh37
NC_000012.10:g.90025221_90025235delinsGAAAGAAAGAAAGAA	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000266718.5:c.862+791_862+805delinsTTCTTTCTTTCTTTC MANE Select	ENSP00000266718.4:n.862+791_862+805delinsTTCTTTCTTTCTTTC
ENST00000266718.4:c.862+791_862+805delinsTTCTTTCTTTCTTTC	ENSP00000266718.4:n.862+791_862+805delinsTTCTTTCTTTCTTTC
ENST00000546642.1:n.612+791_612+805delinsTTCTTTCTTTCTTTC
ENST00000548071.1:n.255+791_255+805delinsTTCTTTCTTTCTTTC
NM_002345.3:c.862+791_862+805delinsTTCTTTCTTTCTTTC	NP_002336.1:n.862+791_862+805delinsTTCTTTCTTTCTTTC
NM_002345.4:c.862+791_862+805delinsTTCTTTCTTTCTTTC MANE Select	NP_002336.1:n.862+791_862+805delinsTTCTTTCTTTCTTTC