Canonical Allele Identifier: CA241230506
Gene: LUM HGNC NCBI

Linked Data

dbSNP Id: rs752887695
gnomAD v2: 12-91501148-AAGAG-A
gnomAD v3: 12-91107371-AAGAG-A
gnomAD v4: 12-91107371-AAGAG-A
MyVariant Identifiers: chr12:g.91501149_91501152del (hg19) chr12:g.91107372_91107375del (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.91107380_91107383del , CM000674.2:g.91107380_91107383del GRCh38
NC_000012.11:g.91501157_91501160del , CM000674.1:g.91501157_91501160del GRCh37
NC_000012.10:g.90025288_90025291del NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000266718.5:c.862+743_862+746del MANE Select ENSP00000266718.4:n.862+743_862+746del
ENST00000266718.4:c.862+743_862+746del ENSP00000266718.4:n.862+743_862+746del
ENST00000546642.1:n.612+743_612+746del
ENST00000548071.1:n.255+743_255+746del
NM_002345.3:c.862+743_862+746del NP_002336.1:n.862+743_862+746del
NM_002345.4:c.862+743_862+746del MANE Select NP_002336.1:n.862+743_862+746del
Search 100 bp 5'
Search 100 bp 3'