Canonical Allele Identifier: CA606703625
Gene: LUM HGNC NCBI

Linked Data

dbSNP Id: rs1238511552
gnomAD v2: 12-91501020-GAA-G
gnomAD v3: 12-91107243-GAA-G
gnomAD v4: 12-91107243-GAA-G
MyVariant Identifiers: chr12:g.91501021_91501022del (hg19) chr12:g.91107244_91107245del (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.91107245_91107246del , CM000674.2:g.91107245_91107246del GRCh38
NC_000012.11:g.91501022_91501023del , CM000674.1:g.91501022_91501023del GRCh37
NC_000012.10:g.90025153_90025154del NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000266718.5:c.862+873_862+874del MANE Select ENSP00000266718.4:n.862+873_862+874del
ENST00000266718.4:c.862+873_862+874del ENSP00000266718.4:n.862+873_862+874del
ENST00000546642.1:n.612+873_612+874del
ENST00000548071.1:n.255+873_255+874del
NM_002345.3:c.862+873_862+874del NP_002336.1:n.862+873_862+874del
NM_002345.4:c.862+873_862+874del MANE Select NP_002336.1:n.862+873_862+874del
Search 100 bp 5'
Search 100 bp 3'