Canonical Allele Identifier: CA950429978

Gene: LUM

Linked Data

• dbSNP Id: rs1880091275
• gnomAD v3: 12-91107297-GAAAGAAAGAAAGAA-G
• gnomAD v4: 12-91107297-GAAAGAAAGAAAGAA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.91107299_91107312del , CM000674.2:g.91107299_91107312del	GRCh38
NC_000012.11:g.91501076_91501089del , CM000674.1:g.91501076_91501089del	GRCh37
NC_000012.10:g.90025207_90025220del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000266718.5:c.862+807_862+820del MANE Select	ENSP00000266718.4:n.862+807_862+820del
ENST00000266718.4:c.862+807_862+820del	ENSP00000266718.4:n.862+807_862+820del
ENST00000546642.1:n.612+807_612+820del
ENST00000548071.1:n.255+807_255+820del
NM_002345.3:c.862+807_862+820del	NP_002336.1:n.862+807_862+820del
NM_002345.4:c.862+807_862+820del MANE Select	NP_002336.1:n.862+807_862+820del