Canonical Allele Identifier: CA241230516
Gene: LUM HGNC NCBI

Linked Data

dbSNP Id: rs199916366
gnomAD v2: 12-91501157-AGAGG-A
gnomAD v3: 12-91107380-AGAGG-A
gnomAD v4: 12-91107380-AGAGG-A
MyVariant Identifiers: chr12:g.91501158_91501161del (hg19) chr12:g.91107381_91107384del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.91107395_91107398del , CM000674.2:g.91107395_91107398del GRCh38
NC_000012.11:g.91501172_91501175del , CM000674.1:g.91501172_91501175del GRCh37
NC_000012.10:g.90025303_90025306del NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000266718.5:c.862+734_862+737del MANE Select ENSP00000266718.4:n.862+734_862+737del
ENST00000266718.4:c.862+734_862+737del ENSP00000266718.4:n.862+734_862+737del
ENST00000546642.1:n.612+734_612+737del
ENST00000548071.1:n.255+734_255+737del
NM_002345.3:c.862+734_862+737del NP_002336.1:n.862+734_862+737del
NM_002345.4:c.862+734_862+737del MANE Select NP_002336.1:n.862+734_862+737del
Search 100 bp 5'
Search 100 bp 3'