Canonical Allele Identifier: CA241230169
Gene: LUM HGNC NCBI

Linked Data

dbSNP Id: rs140231552
gnomAD v2: 12-91500974-GAA-G
gnomAD v3: 12-91107197-GAA-G
gnomAD v4: 12-91107197-GAA-G
MyVariant Identifiers: chr12:g.91500975_91500976del (hg19) chr12:g.91107198_91107199del (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.91107201_91107202del , CM000674.2:g.91107201_91107202del GRCh38
NC_000012.11:g.91500978_91500979del , CM000674.1:g.91500978_91500979del GRCh37
NC_000012.10:g.90025109_90025110del NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000266718.5:c.862+919_862+920del MANE Select ENSP00000266718.4:n.862+919_862+920del
ENST00000266718.4:c.862+919_862+920del ENSP00000266718.4:n.862+919_862+920del
ENST00000546642.1:n.612+919_612+920del
ENST00000548071.1:n.255+919_255+920del
NM_002345.3:c.862+919_862+920del NP_002336.1:n.862+919_862+920del
NM_002345.4:c.862+919_862+920del MANE Select NP_002336.1:n.862+919_862+920del
Search 100 bp 5'
Search 100 bp 3'