Canonical Allele Identifier: CA693364327
Gene: LUM HGNC NCBI

Linked Data

dbSNP Id: rs1211602795
gnomAD v3: 12-91107325-GAA-G
gnomAD v4: 12-91107325-GAA-G
MyVariant Identifiers: chr12:g.91501103_91501104del (hg19) chr12:g.91107326_91107327del (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.91107327_91107328del , CM000674.2:g.91107327_91107328del GRCh38
NC_000012.11:g.91501104_91501105del , CM000674.1:g.91501104_91501105del GRCh37
NC_000012.10:g.90025235_90025236del NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000266718.5:c.862+791_862+792del MANE Select ENSP00000266718.4:n.862+791_862+792del
ENST00000266718.4:c.862+791_862+792del ENSP00000266718.4:n.862+791_862+792del
ENST00000546642.1:n.612+791_612+792del
ENST00000548071.1:n.255+791_255+792del
NM_002345.3:c.862+791_862+792del NP_002336.1:n.862+791_862+792del
NM_002345.4:c.862+791_862+792del MANE Select NP_002336.1:n.862+791_862+792del
Search 100 bp 5'
Search 100 bp 3'