Canonical Allele Identifier: CA950429095
Gene: LUM HGNC NCBI

Linked Data

dbSNP Id: rs1880063614
gnomAD v3: 12-91107213-AAGAGAGAAAGAAGAAAGAAAGAAAGGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG-A
gnomAD v4: 12-91107213-AAGAGAGAAAGAAGAAAGAAAGAAAGGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG-A
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.91107217_91107290del , CM000674.2:g.91107217_91107290del GRCh38
NC_000012.11:g.91500994_91501067del , CM000674.1:g.91500994_91501067del GRCh37
NC_000012.10:g.90025125_90025198del NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000266718.5:c.862+831_862+904del MANE Select ENSP00000266718.4:n.862+831_862+904del
ENST00000266718.4:c.862+831_862+904del ENSP00000266718.4:n.862+831_862+904del
ENST00000546642.1:n.612+831_612+904del
ENST00000548071.1:n.255+831_255+904del
NM_002345.3:c.862+831_862+904del NP_002336.1:n.862+831_862+904del
NM_002345.4:c.862+831_862+904del MANE Select NP_002336.1:n.862+831_862+904del
Search 100 bp 5'
Search 100 bp 3'