Canonical Allele Identifier: CA950429423

Gene: LUM

Linked Data

• dbSNP Id: rs1880076885
• gnomAD v3: 12-91107259-GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAGAA-G
• gnomAD v4: 12-91107259-GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAGAA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.91107261_91107292del , CM000674.2:g.91107261_91107292del	GRCh38
NC_000012.11:g.91501038_91501069del , CM000674.1:g.91501038_91501069del	GRCh37
NC_000012.10:g.90025169_90025200del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000266718.5:c.862+827_862+858del MANE Select	ENSP00000266718.4:n.862+827_862+858del
ENST00000266718.4:c.862+827_862+858del	ENSP00000266718.4:n.862+827_862+858del
ENST00000546642.1:n.612+827_612+858del
ENST00000548071.1:n.255+827_255+858del
NM_002345.3:c.862+827_862+858del	NP_002336.1:n.862+827_862+858del
NM_002345.4:c.862+827_862+858del MANE Select	NP_002336.1:n.862+827_862+858del