Canonical Allele Identifier: CA950428994

Gene: LUM

Linked Data

• dbSNP Id: rs1880057553
• gnomAD v3: 12-91107180-AG-A
• gnomAD v4: 12-91107180-AG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.91107181del , CM000674.2:g.91107181del	GRCh38
NC_000012.11:g.91500958del , CM000674.1:g.91500958del	GRCh37
NC_000012.10:g.90025089del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000266718.5:c.862+937del MANE Select	ENSP00000266718.4:n.862+937del
ENST00000266718.4:c.862+937del	ENSP00000266718.4:n.862+937del
ENST00000546642.1:n.612+937del
ENST00000548071.1:n.255+937del
NM_002345.3:c.862+937del	NP_002336.1:n.862+937del
NM_002345.4:c.862+937del MANE Select	NP_002336.1:n.862+937del