Canonical Allele Identifier: CA2054318378

Gene: LUM

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.91107267_91107311delinsGAAAGAAAGAAAGAAAGAAAGAGAAAGAAAGAAAGAAAGAAAGAA , CM000674.2:g.91107267_91107311delinsGAAAGAAAGAAAGAAAGAAAGAGAAAGAAAGAAAGAAAGAAAGAA	GRCh38
NC_000012.11:g.91501044_91501088delinsGAAAGAAAGAAAGAAAGAAAGAGAAAGAAAGAAAGAAAGAAAGAA , CM000674.1:g.91501044_91501088delinsGAAAGAAAGAAAGAAAGAAAGAGAAAGAAAGAAAGAAAGAAAGAA	GRCh37
NC_000012.10:g.90025175_90025219delinsGAAAGAAAGAAAGAAAGAAAGAGAAAGAAAGAAAGAAAGAAAGAA	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000266718.5:c.862+807_862+851delinsTTCTTTCTTTCTTTCTTTCTTTCTCTTTCTTTCTTTCTTTCTTTC MANE Select	ENSP00000266718.4:n.862+807_862+851delinsTTCTTTCTTTCTTTCTTTCT...
ENST00000266718.4:c.862+807_862+851delinsTTCTTTCTTTCTTTCTTTCTTTCTCTTTCTTTCTTTCTTTCTTTC	ENSP00000266718.4:n.862+807_862+851delinsTTCTTTCTTTCTTTCTTTCT...
ENST00000546642.1:n.612+807_612+851delinsTTCTTTCTTTCTTTCTTTCTTTCTCTTTCTTTCTTTCTTTCTTTC
ENST00000548071.1:n.255+807_255+851delinsTTCTTTCTTTCTTTCTTTCTTTCTCTTTCTTTCTTTCTTTCTTTC
NM_002345.3:c.862+807_862+851delinsTTCTTTCTTTCTTTCTTTCTTTCTCTTTCTTTCTTTCTTTCTTTC	NP_002336.1:n.862+807_862+851delinsTTCTTTCTTTCTTTCTTTCTTTCTCT...
NM_002345.4:c.862+807_862+851delinsTTCTTTCTTTCTTTCTTTCTTTCTCTTTCTTTCTTTCTTTCTTTC MANE Select	NP_002336.1:n.862+807_862+851delinsTTCTTTCTTTCTTTCTTTCTTTCTCT...